Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Autor: Adang LA; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: adangl@chop.edu., Groeschel S; University Children's Hospital, Hoppe-Seyler-Str.1, Tuebingen, DE 72070, USA. Electronic address: samuel.groeschel@med.uni-tuebingen.de., Grzyb C; University of Pittsburgh, Department of Pediatrics, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address: cgrzyb@pennstatehealth.psu.edu., D'Aiello R; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: daielloiir@chop.edu., Gavazzi F; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: gavazzif@chop.edu., Sherbini O; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: serbinio@chop.edu., Bronner N; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA; Uniformed Services University of Health Sciences, Bethesda, MD, USA., Patel A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA; Penn State Health Milton S. Hershey Medical Center, Hershey, PA, USA., Vincent A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: vincenta@chop.edu., Sevagamoorthy A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: sevagamooa@chop.edu., Mutua S; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: mutuas@chop.edu., Muirhead K; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA., Schmidt J; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: schmidtj1@chop.edu., Pizzino A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: pizzinoa@chop.edu., Yu E; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: Yue2@chop.edu., Jin D; University of Minnesota, Minneapolis, MN, USA. Electronic address: zhuxx003@umn.edu., Eichler F; Massachusetts General Hospital, Boston, MA, USA. Electronic address: feichler@partners.org., Fraser JL; Children's National Medical Center, Washington, DC 20010-2978, USA. Electronic address: JFraser@childrensnational.org., Emrick L; Baylor College of Medicine, Houston, TX 77030-3411, USA. Electronic address: emrick@bcm.edu., Van Haren K; Stanford University, Neurology, Stanford, CA, USA. Electronic address: kvh@stanford.edu., Boulanger JM; Charles-LeMoyne Hospital, Greenfield Park, QC, Canada. Electronic address: jean-martin.boulanger.med@ssss.gouv.qc.ca., Ruzhnikov M; Stanford University, Neurology, Stanford, CA, USA. Electronic address: ruzhnikov@stanford.edu., Sylvain M; Université Laval, Division of Pediatric Neurology, Centre Mère-Enfant Soleil, Quebec, QC, Canada., Nguyen CÉ; Centre Hospitalier Universitaire Sainte-Justine, Department of Neurosciences and Pediatrics, Division of Pediatric Neurology, Montreal, QC, Canada. Electronic address: cam-tu.emilie.nguyen.hsj@ssss.gouv.qc.ca., Potic A; University of Belgrade Faculty of Medicine, Department of Neurology, Clinic for Child Neurology and Psychiatry, Beograd, Republic of Serbia., Keller S; Children's Healthcare of Atlanta Scottish Rite Hospital, Atlanta, GA, USA. Electronic address: stephanie.keller@choa.org., Fatemi A; Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA. Electronic address: fatemi@kennedykrieger.org., Uebergang E; Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne, Department of Paediatrics, Melbourne, VIC, Australia. Electronic address: eloise.uebergang@mcri.edu.au., Poe M; University of Pittsburgh, Department of Pediatrics, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address: michele.poe@chp.edu., Yazdani PA; Research Institute of the McGill University Health Centre, Montreal, QC, Canada. Electronic address: pouneh.amir-yazdani.1@ulaval.ca., Bernat J; University of Iowa Hospitals and Clinics, Iowa City, IA, USA. Electronic address: john-bernat@uiowa.edu., Lindstrom K; BioMarin Pharmaceutical Inc, Novato, CA, USA; Phoenix Children's Hospital, Phoenix, AZ, USA., Bonkowsky JL; University of Utah School of Medicine, Division of Pediatric Neurology, Department of Pediatrics, 295 Chipeta Way, Williams Building, Salt Lake City, UT 84108, USA. Electronic address: joshua.bonkowsky@hsc.utah.edu., Bernard G; Montreal Children's Hospital, McGill University Health Center, Departments of Pediatrics, Neurology and Neurosurgery, 2300 Tupper, Room A-506, Montreal, QC H3H 1P3, Canada. Electronic address: genevieve.bernard@mcgill.ca., Stutterd CA; Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne, Department of Paediatrics, Melbourne, VIC, Australia. Electronic address: chloe.stutterd@vcgs.org.au., Orchard P; University of Minnesota, Minneapolis, MN, USA. Electronic address: orcha001@umn.edu., Gupta AO; University of Minnesota, Minneapolis, MN, USA. Electronic address: gupta461@umn.edu., Ljungberg M; Copenhagen University Hospital, Centre Inherited Metabolic Disease, Department of Pediatrics and Adolescent Medicine, Kobenhavn, Denmark. Electronic address: merete.ljungberg@regionh.dk., Groenborg S; Copenhagen University Hospital, Centre Inherited Metabolic Disease, Department of Pediatrics and Adolescent Medicine, Kobenhavn, Denmark. Electronic address: sabine.groenborg@regionh.dk., Zambon A; San Raffaele Scientific Institute, Division of Neuroscience, Milan, Italy. Electronic address: zambon.alberto@hsr.it., Locatelli S; San Raffaele Hospital, Paediatric Immunohematology and Unit of Neurology, Milano, Lombardia, Italy. Electronic address: locatelli.sara@hsr.it., Fumagalli F; Ospedale San Raffaele, Via Olgettina 60, Milano 20132, Italy. Electronic address: fumagalli.francesca@hsr.it., Elguen S; University Children's Hospital, Hoppe-Seyler-Str.1, Tuebingen, DE 72070, USA. Electronic address: Saskia.Elguen@med.uni-tuebingen.de., Kehrer C; University Children's Hospital, Hoppe-Seyler-Str.1, Tuebingen, DE 72070, USA. Electronic address: christiane.kehrer@med.uni-tuebingen.de., Krägeloh-Mann I; University Children's Hospital, Hoppe-Seyler-Str.1, Tuebingen, DE 72070, USA. Electronic address: ingeborg.kraegeloh-mann@med.uni-tuebingen.de., Shults J; The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: shultsj@chop.edu., Vanderver A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: vandervera@chop.edu., Escolar ML; University of Pittsburgh, Department of Pediatrics, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address: mle26@pitt.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108521. Date of Electronic Publication: 2024 Jun 29.

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

Autor: Adang LA; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: adangl@chop.edu., Bonkowsky JL; University of Utah, Salt Lake City, Utah, USA., Boelens JJ; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies, Memorial Sloan Kettering Cancer Center, Weill Cornell Medical College of Cornell University, New York, New York, USA., Mallack E; Kennedy Krieger Institute, Baltimore, Maryland, USA., Ahrens-Nicklas R; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bernat JA; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA., Bley A; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Burton B; Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Darling A; Hospital Sant Joan de Déu, Barcelona, Spain., Eichler F; Massachusetts General Hospital, Boston, Massachusetts, USA., Eklund E; Lund University, Lund, Sweden., Emrick L; Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Escolar M; Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; Forge Biologics, Grove City, Ohio, USA., Fatemi A; Kennedy Krieger Institute, Baltimore, Maryland, USA., Fraser JL; Children's National Hospital, Washington, District of Columbia, USA., Gaviglio A; Division of Laboratory Services, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, Georgia, USA; Association of Public Health Laboratories, Silver Spring, Maryland, USA., Keller S; Children's Healthcare of Atlanta, Atlanta, Georgia, USA., Patterson MC; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA., Orchard P; University of Minnesota, Minneapolis, Minnesota, USA., Orthmann-Murphy J; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Santoro JD; University of Southern California, Children's Hospital Los Angeles, Keck School of Medicine, Los Angeles, California, USA., Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany., Sevin C; Université Paris-Saclay, Hôpital Bicêtre, Paris, France., Srivastava IN; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California, USA., Rajan D; University of Pittsburgh, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Rubin JP; Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Van Haren K; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California, USA., Wasserstein M; Department of Pediatrics, Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York, USA., Zerem A; Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Fumagalli F; Ospedale San Raffaele, Milano, Italy., Laugwitz L; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Tübingen, Germany., Vanderver A; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: Cytotherapy [Cytotherapy] 2024 Jul; Vol. 26 (7), pp. 739-748. Date of Electronic Publication: 2024 Apr 01.

Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review.

Autor: Koto Y; Faculty of Nursing, Graduate School of Nursing, Kansai Medical University, Osaka, Japan.; The Japan Centre for Evidence Based Practice: A JBI Centre of Excellence, Osaka, Japan., Ueki S; The Japan Centre for Evidence Based Practice: A JBI Centre of Excellence, Osaka, Japan.; Faculty of Medical Sciences, Department of Health Sciences, Kyushu University, Fukuoka, Japan., Yamakawa M; The Japan Centre for Evidence Based Practice: A JBI Centre of Excellence, Osaka, Japan.; Department of Evidence-Based Clinical Nursing, Division of Health Sciences, Graduate School of Medicine, Osaka University, Osaka, Japan., Sakai N; Child Healthcare and Genetic Science Laboratory, Division of Health Science, Osaka University Graduate School of Medicine, Osaka, Japan.

Publikováno v: JBI evidence synthesis [JBI Evid Synth] 2024 Jul 01; Vol. 22 (7), pp. 1262-1302. Date of Electronic Publication: 2024 Jul 01.

Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.

Autor: Beerepoot S; Amsterdam UMC, Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, VU University, Amsterdam, The Netherlands.; Neuroscience, Cellular & Molecular Mechanisms, VU University, Amsterdam, The Netherlands.; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Boelens JJ; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Pediatrics, Stem Cell Transplant and Cellular Therapies, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Lindemans C; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Regenerative Medicine Institute, University Medical Center Utrecht, Utrecht, The Netherlands., de Witte MA; Department of Hematology, University Medical Center, Utrecht, The Netherlands., Nierkens S; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Vrancken AFJE; Department of Neurology, Brain Centre University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van der Knaap MS; Amsterdam UMC, Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, VU University, Amsterdam, The Netherlands.; Neuroscience, Cellular & Molecular Mechanisms, VU University, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands., Bugiani M; Neuroscience, Cellular & Molecular Mechanisms, VU University, Amsterdam, The Netherlands.; Amsterdam UMC, Department of Pathology, VU University Amsterdam, Amsterdam, The Netherlands., Wolf NI; Amsterdam UMC, Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, VU University, Amsterdam, The Netherlands. n.wolf@amsterdamumc.nl.; Neuroscience, Cellular & Molecular Mechanisms, VU University, Amsterdam, The Netherlands. n.wolf@amsterdamumc.nl.

Publikováno v: Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 4028-4038. Date of Electronic Publication: 2024 Apr 02.

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.

Autor: Bekri S; Hospital Charles Nicolle, UNIROUEN INSERM U1245, CHU Rouen, Referral Center for Lysosomal Diseases, Department of Metabolic Biochemistry, 76000 Rouen, France.. Electronic address: Soumeya.Bekri@chu-rouen.fr., Bley A; Department of Pediatrics, University Medical Center, Hamburg Eppendorf, Hamburg, Germany., Brown HA; Willink Biochemical Genetics Laboratory, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Chanson C; Orchard Therapeutics Limited, 245 Hammersmith Rd, London W6 8PW, UK., Church HJ; Willink Biochemical Genetics Laboratory, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Gelb MH; Dept. of Chemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: gelb@uw.edu., Hong X; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Janzen N; Screening-Laboratory Hannover, Hannover 30430, Germany; Department of Clinical Chemistry, Hannover Medical School, Hannover, Germany; Centre for Children and Adolescents, Kinder- and Jugenbrankenhaus Auf der Bult, Hannover, Germany., Kasper DC; Archimedlife, Vienna, Austria., Mechtler T; Archimedlife, Vienna, Austria. Electronic address: t.mechtler@archimedlife.com., Morton G; ArchAngel MLD Trust, 506 Betula House, North Wharf Road, London W1 2DT, UK., Murko S; Newborn Screening and Metabolic Laboratory, Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Oliva P; Archimedlife, Vienna, Austria., Tebani A; Hospital Charles Nicolle, UNIROUEN INSERM U1245, CHU Rouen, Referral Center for Lysosomal Diseases, Department of Metabolic Biochemistry, 76000 Rouen, France., Wu THY; Willink Biochemical Genetics Laboratory, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: hoiyee.wu@mft.nhs.uk.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108436. Date of Electronic Publication: 2024 Mar 22.