Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy.

Autor: Kampmann C; Department of Pediatric Cardiology and Structural Heart Diseases, Center for Diseases in Childhood and Adolescence, University Medicine Mainz, Mainz, Germany., Lampe C; Department of Child Neurology, Epileptology and Social Medicine, University Hospital Giessen, Giessen, Germany., Wiethoff CM; Department of Pediatric Cardiology and Structural Heart Diseases, Center for Diseases in Childhood and Adolescence, University Medicine Mainz, Mainz, Germany., Arash-Kaps L; SphinCS, Institute of Clinical Science in LSD, Hochheim, Germany., Mengel E; SphinCS, Institute of Clinical Science in LSD, Hochheim, Germany., Reinke J; Medical center for adults with disabilities, Kreuznacher Diakonie, Bad Kreuznach, Germany., Beck M; SphinCS, Institute of Clinical Science in LSD, Hochheim, Germany., Hennermann JB; Department of Metabolic Diseases, Villa Metabolica, Center for Diseases in Childhood and Adolescence, University Medicine Mainz, Mainz, Germany., Abu-Tair T; Department of Pediatric Cardiology and Structural Heart Diseases, Center for Diseases in Childhood and Adolescence, University Medicine Mainz, Mainz, Germany.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Oct 23. Date of Electronic Publication: 2024 Oct 23.

Trial of N -Acetyl-l-Leucine in Niemann-Pick Disease Type C.

Autor: Bremova-Ertl T; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Ramaswami U; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Brands M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Foltan T; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Gautschi M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Gissen P; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Gowing F; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Hahn A; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Jones S; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Kay R; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Kolnikova M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Arash-Kaps L; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Marquardt T; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Mengel E; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Park JH; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Reichmannová S; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Schneider SA; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Sivananthan S; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Walterfang M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Wibawa P; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Strupp M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Martakis K; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).

Publikováno v: The New England journal of medicine [N Engl J Med] 2024 Feb 01; Vol. 390 (5), pp. 421-431.

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.

Autor: Wasserstein M; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY. Electronic address: mwassers@montefiore.org., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Hollak C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Arash-Kaps L; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany; Clinical Science for LSD, SphinCS, Hochheim, Germany., Barbato A; Department of Clinical Medicine and Surgery, 'Federico II' University Hospital, Naples, Italy., Gallagher RC; Institute for Human Genetics, University of California San Francisco, San Francisco, CA., Giugliani R; Medical Genetics Service and DR BRASIL Research Group, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil; National Institute on Population Medical Genetics (INAGEMP), Porto Alegre, Brazil., Guelbert NB; Metabolic Disease Service Clinica Universitaria Reina Fabiola, Cordoba, Argentina., Ikezoe T; Department of Hematology, Fukushima Medical University, Fukushima, Japan., Lidove O; Service de Médecine Interne, Diaconesses Croix Saint-Simon Hospital, Paris, France., Mabe P; Servicio de Pediatría, Clínica Santa María, Santiago, Chile., Mengel E; Clinical Science for LSD, SphinCS, Hochheim, Germany., Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy., Senates E; Department of Gastroenterology, Istanbul Medeniyet University, Istanbul, Turkey., Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia., Villarrubia J; Hematology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain., Chen Y; Clinical Development, Sanofi, Bridgewater, NJ., Furey S; Clinical Development, Sanofi, Bridgewater, NJ., Thurberg BL; Clinical Development, Sanofi, Bridgewater, NJ., Zaher A; Clinical Development, Sanofi, Bridgewater, NJ., Kumar M; Clinical Development, Sanofi, Bridgewater, NJ.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jul; Vol. 24 (7), pp. 1425-1436. Date of Electronic Publication: 2022 Apr 26.

Fabry disease: a rare disorder calling for personalized medicine.

Autor: Lerario S; Nephrology, Dialysis, and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Monti L; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Ambrosetti I; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Luglio A; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Pietra A; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Aiello V; Nephrology, Dialysis, and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Montanari F; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Bellasi A; Servizio Di Nefrologia, Ospedale Regionale Di Lugano, Ente Ospedaliero Cantonale, Ospedale CivicoVia Tesserete 46, 6903, Lugano, Switzerland.; Università Della Svizzera Italiana (USI), Lugano, Switzerland., Zaza G; Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036, Rende, CS, Italy., Galante A; Università Della Svizzera Italiana (USI), Lugano, Switzerland., Salera D; Servizio Di Nefrologia, Ospedale Regionale Di Lugano, Ente Ospedaliero Cantonale, Ospedale CivicoVia Tesserete 46, 6903, Lugano, Switzerland., Capelli I; Nephrology, Dialysis, and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy. irene.capelli4@unibo.it., La Manna G; Nephrology, Dialysis, and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy. gaetano.lamanna@unibo.it., Provenzano M; Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036, Rende, CS, Italy.

Publikováno v: International urology and nephrology [Int Urol Nephrol] 2024 Oct; Vol. 56 (10), pp. 3161-3172. Date of Electronic Publication: 2024 Apr 13.

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).

Autor: Muschol NM; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Pape D; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Kossow K; Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Ullrich K; Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Martinistr.52, 20246, Hamburg, Germany., Arash-Kaps L; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Langenbeckstr. 1, 55131, Mainz, Germany., Hennermann JB; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Langenbeckstr. 1, 55131, Mainz, Germany., Stücker R; Department of Pediatric Orthopedics, Altonaer Children's Hospital, Bleickenallee 38, 22763, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Breyer SR; Department of Pediatric Orthopedics, Altonaer Children's Hospital, Bleickenallee 38, 22763, Hamburg, Germany. sandra.breyer@kinderkrankenhaus.net.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany. sandra.breyer@kinderkrankenhaus.net.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 May 02; Vol. 14 (1), pp. 93. Date of Electronic Publication: 2019 May 02.