The Myelin Disorders Biorepository Project
מצבים רפואיים
Leukodystrophy · White Matter Disease · Leukoencephalopathies · 4H Syndrome · Adrenoleukodystrophy · AMN · ALD · ALD Gene Mutation · ALD (Adrenoleukodystrophy) · X-linked Adrenoleukodystrophy · X-ALD · Adrenomyeloneuropathy · Aicardi Goutieres Syndrome · AGS · Alexander Disease · Alexanders Leukodystrophy · AxD · ADLD · Canavan Disease · CTX · Cerebrotendinous Xanthomatoses · Krabbe Disease · GALC Deficiency · Globoid Leukodystrophy · TUBB4A-Related Leukodystrophy · H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum · HBSL · HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity · LBSL · Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder) · Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation · ALSP · CSF1R Gene Mutation · HCC - Hypomyelination and Congenital Cataract · MLC1 · Megalencephalic Leukoencephalopathy With Subcortical Cysts · MLD · Metachromatic Leukodystrophy · PMD · Pelizaeus-Merzbacher Disease · PLP1 Null Syndrome · PLP1 Gene Duplication | Blood or Tissue | Mutations · Pelizaeus Merzbacher Like Disease · Peroxisomal Biogenesis Disorder · Zellweger Syndrome · Refsum Disease · Salla Disease · Sialic Storage Disease · Sjögren · Sjogren-Larsson Syndrome · Van Der Knapp Disease · Vanishing White Matter Disease · Charcot-Marie-Tooth · CMT · Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency · Allan-Herndon-Dudley Syndrome · Cadasil · Cockayne Syndrome · Multiple Sulfatase Deficiency · Gangliosidoses · GM2 Gangliosidosis · BPAN · Labrune Syndrome · LCC · Mucopolysaccharidoses · TBCK-Related Intellectual Disability Syndrome
סיכום בשפה פשוטהבעזרת בינה מלאכותית
הסיכום נכתב על־ידי מודל שפה והוא ניסיוני. המידע עלול להיות חלקי או שגוי ואינו תחליף לייעוץ רפואי.
מיקומים
Children's Hospital of Los Angeles, Los Angeles, California, United States
Contact: Study coordinator (Jonathan Santoro, MD)Children's Hospital of Orange County, Orange, California, United States
Contact: Study coordinator (Changrui Xiao, MD)Stanford University (Lucile Packard Children's Hospital), Palo Alto, California, United States
Contact: Study coordinator (Keith Van Haren, MD)University of California, Davis (UC Davis Health), Sacramento, California, United States
Contact: Study coordinator (William Benko, MD)University of California, San Diego (Rady Children's Hospital), San Diego, California, United States
Contact: Study coordinator (Jennifer Yang, MD)UCSF Benioff Children's Hospital, San Francisco, California, United States
Contact: Study coordinator (Alexander Fay, MD, PhD)Children's National Medical Center, Washington D.C., District of Columbia, United States
Contact: Study coordinator (Jamie Fraser, MD, PhD)Emory University (Children's Healthcare of Atlanta), Atlanta, Georgia, United States
Contact: Study coordinator (Stephanie Keller, MD)Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, United States
Contact: Study coordinator (Jennifer P Rubin, MD)Kennedy Krieger Institute, Baltimore, Maryland, United States
Contact: Study coordinator (Ali Fatemi, MD, MBA)Massachusetts General Hospital (MGH), Boston, Massachusetts, United States
Contact: Study coordinator (Florian Eichler, MD)University of Minnesota, Minneapolis, Minnesota, United States
Contact: Study coordinator (Paul Orchard, MD)Mayo Clinic, Rochester, Minnesota, United States
Contact: Study coordinator (Radhika Dhamija, MBBS)Atrium Health Wake Forest Baptist, Winston-Salem, North Carolina, United States
Contact: Study coordinator (Jennifer Harmon, MD, PhD)Akron Children's Hospital, Akron, Ohio, United States
Contact: Study coordinator (Matthew Ginsberg, MD)Nationwide Children's Hospital, Columbus, Ohio, United States
Contact: Study coordinator (Margie Ream, MD, PhD)The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
Contact: Principal Investigator (Adeline Vanderver, MD)Laura Adang, MD, PhD, MSTR (Sub-investigator)Amy Waldman, MD, MSCE (Sub-investigator)University of Pennsylvania, Philadelphia, Pennsylvania, United States
Contact: Study coordinator (Jennifer Orthmann-Murphy, MD, PhD)University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, United States
Contact: Study coordinator (Deepa Rajan, MD)Baylor College of Medicine (Texas Children's Hospital), Houston, Texas, United States
Contact: Study coordinator (Lisa Emrick, MD)UT Health Houston, Houston, Texas, United States
Contact: Study coordinator (Mary Kay Koenig, MD)University of Utah (Primary Children's Hospital), Salt Lake City, Utah, United States
Contact: Study coordinator (Joshua Bonkowsky, MD, PhD)Seattle Children's Hospital, Seattle, Washington, United States
Contact: Study coordinator (Emily Shelkowitz, MD)
מובילי המחקר
Adeline Vanderver, MD
Principal Investigator
Children's Hospital of Philadelphia