Zobrazeno 1 - 10
of 19 594
pro vyhledávání: '"Enzyme replacement therapy"'
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.
Autor:
Dahir KM; Program for Metabolic Bone Disorders, Vanderbilt University Medical Center, Nashville, TN 37232-8148, United States., Shannon A; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA 02210, United States., Dunn D; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA 02210, United States., Voegtli W; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA 02210, United States., Dong Q; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA 02210, United States., Hasan J; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA 02210, United States., Pradhan R; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA 02210, United States., Pelto R; Bioanalytical and Biomarker Development, Alexion, AstraZeneca Rare Disease, New Haven, CT 06510, United States., Pan WJ; Development, Regulatory and Safety, Alexion, AstraZeneca Rare Disease, Boston, MA 02210, United States.
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2024 Sep 26; Vol. 39 (10), pp. 1412-1423.
Autor:
Toskov V; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany., Bali P; Department of Medicine and Biochemistry, Duke University Medical Center, Durham, NC, USA., Hershfield MS; Department of Medicine and Biochemistry, Duke University Medical Center, Durham, NC, USA., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Breisacher Str. 117, 79106, Freiburg, Germany., Speckmann C; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany. carsten.speckmann@uniklinik-freiburg.de.; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Breisacher Str. 117, 79106, Freiburg, Germany. carsten.speckmann@uniklinik-freiburg.de.
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2024 Sep 12; Vol. 45 (1), pp. 8. Date of Electronic Publication: 2024 Sep 12.
Autor:
Veldman BCF; Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Schoenmakers DH; Department of Endocrinology and Metabolism, Platform 'Medicine for Society', Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, 1081 HV Amsterdam, The Netherlands., van Dussen L; Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Datema MR; Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Langeveld M; Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 09; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 09.
Autor:
Arik E; Faculty of Medicine, Department of Pediatric Allergy and Immunology, Gaziantep University, Gaziantep, Türkiye., Keskin Ö; Faculty of Medicine, Department of Pediatric Allergy and Immunology, Gaziantep University, Gaziantep, Türkiye., Albayrak S; Faculty of Medicine, Department of Pediatric Endocrinology, Gaziantep University, Gaziantep, Türkiye., Keskin M; Faculty of Medicine Department of Pediatric Endocrinology and Metabolism, Gaziantep University, Gaziantep, Türkiye., Cesur M; Faculty of Medicine, Department of Pediatric Allergy and Immunology, Gaziantep University, Gaziantep, Türkiye., Karaoglan M; Faculty of Medicine, Department of Pediatric Endocrinology, Gaziantep University, Gaziantep, Türkiye., Inal G; Faculty of Medicine, Department of Pediatric Allergy and Immunology, Gaziantep University, Gaziantep, Türkiye., Yildirim A; Faculty of Medicine, Department of Pediatric Endocrinology, Gaziantep University, Gaziantep, Türkiye., Kucukosmanoglu E; Faculty of Medicine, Department of Pediatric Allergy and Immunology, Gaziantep University, Gaziantep, Türkiye.
Publikováno v:
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Sep 04; Vol. 37 (10), pp. 866-874. Date of Electronic Publication: 2024 Sep 04 (Print Publication: 2024).
Autor:
Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: priya.kishnani@duke.edu., Chien YH; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Berger KI; Sanofi, Cambridge, MA, USA., Thibault N; Sanofi, Cambridge, MA, USA., Sparks S; Sanofi, Cambridge, MA, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108559. Date of Electronic Publication: 2024 Aug 03.
Autor:
Schoser B; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Beek NAME; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Broomfield A; Metabolic Department, Great Ormond Street Hospital, London, UK., Brusse E; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Diaz-Manera J; John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK., Hahn A; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen, Germany., Hundsberger T; Department of Neurology, Cantonal Hospital St Gallen, St Gallen, Switzerland., Kornblum C; Neuromuscular Diseases Section, Department of Neurology, University Hospital Bonn, Bonn, Germany., Kruijshaar M; Center for Lysosomal and Metabolic Diseases Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Laforet P; Neurology Department, Raymond Poincaré Hospital, Nord-Est-Ile-de-France Neuromuscular Reference Center, Garches, APHP, Paris, France.; FHU PHENIX, Université Versailles Saint Quentin en Yvelines, Paris-Saclay University, Paris, France., Mengel E; Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany., Mongini T; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, Torino, Italy., Orlikowski D; Clinical Investigation Center 1429 APHP/INSERM, UMR 1179, Hôpital Raymond Poincaré, Université de Versailles Saint Quentin/Paris Saclay, FHU PHENIX, Paris, France., Parenti G; Department of Translational Medicine, Federico II University, Naples, Italy., Pijnappel WWMP; Department of Clinical Genetics, Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Roberts M; Manchester Centre for Clinical Neurosciences, Manchester, UK., Scherer T; Division of Endocrinology, Innere III, Medical University of Vienna, Vienna, Austria., Toscano A; ERN-NMD Center of Messina for Rare Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., van den Hout JMP; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van Doorn PA; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Wenninger S; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Sep; Vol. 31 (9), pp. e16383. Date of Electronic Publication: 2024 Jun 14.
Autor:
Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China., Zhao Y; Department of Neurology, Peking University First Hospital, Beijing, China., Li F; Department of Neurology, Peking University First Hospital, Beijing, China., Ling C; Department of Neurology, Peking University First Hospital, Beijing, China., Wu Y; Department of Ophthalmology, Peking University First Hospital, Beijing, China., Ma W; Department of Cardiology, Peking University First Hospital, Beijing, China., Wang Z; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Diseases, Beijing, China., Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Diseases, Beijing, China., Hao H; Department of Neurology, Peking University First Hospital, Beijing, China.; Department of Neuroimmunity, Peking University First Hospital, Beijing, China., Zhang W; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Diseases, Beijing, China.
Publikováno v:
Frontiers in immunology [Front Immunol] 2024 Aug 21; Vol. 15, pp. 1367252. Date of Electronic Publication: 2024 Aug 21 (Print Publication: 2024).
Autor:
Al-Hertani W; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Pathak RR; Takeda Pharmaceuticals USA, Inc., Lexington, MA 02421, USA., Evuarherhe O; Oxford PharmaGenesis, Oxford OX13 5QJ, UK., Carter G; Oxford PharmaGenesis, Oxford OX13 5QJ, UK., Schaeffer-Koziol CR; Takeda Pharmaceuticals USA, Inc., Lexington, MA 02421, USA., Whiteman DAH; Takeda Development Center Americas, Inc., Lexington, MA 02421, USA., Wright E; Takeda Development Center Americas, Inc., Lexington, MA 02421, USA.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Aug 06; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 06.
Autor:
Shima H; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan. h.shima@khg.or.jp., Tsukimura T; Department of Functional Bioanalysis, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Shiga T; Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Togawa T; Department of Functional Bioanalysis, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Sakuraba H; Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Doi T; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Ikeda Y; Department of Laboratory, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Okamoto T; Department of Laboratory, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Yoshikawa Y; Department of Laboratory, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Kimura T; Department of Cardiovascular Medicine, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Iwase T; Department of Cardiovascular Medicine, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Inoue T; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Tashiro M; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Okada K; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Minakuchi J; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan.
Publikováno v:
CEN case reports [CEN Case Rep] 2024 Aug; Vol. 13 (4), pp. 290-296. Date of Electronic Publication: 2023 Dec 22.