Results 51 to 60 of about 13,979 (223)

Infantile Metachromatic Leukodystrophy

, 1970
A profound deficiency of arylsulfatase A activity (ARA) is detectable in skin fibroblasts developed from patients with infantile metachromatic leukodystrophy (about 3 to 4 per cent of normal). Fibroblasts were cultivated from skin biopsies of parents and
Howell, R. Rodney, Kaback, Michael M, Michael M. Kaback, R. Rodney Howell   +3 more
core   +1 more source

Globoid Cell Leukodystrophy (Krabbe Disease) [PDF]

, 2014
How to Cite This Article: TAvasoli A. Globoid Cell Leukodystrophy (Krabbe Disease). Iran J Child Neurol.
TAVASOLI, Azita
core   +1 more source

Defining and Measuring Developmental Regression During Childhood: A Scoping Review

Autism Research, EarlyView.
ABSTRACT Developmental regression during childhood is inconsistently defined and measured, resulting in delayed diagnostic discovery and intervention. This study aimed to examine published definitions and measures for developmental regression. A comprehensive search strategy was applied to Medline, Embase, Cochrane, and PsycINFO databases.
Kirsten Furley, Jenny Fairthorne, Vishnu Priya Mohanakumar Sindhu, Katrina Williams, Amanda Brignell   +4 more
wiley   +1 more source

Improved Gene Therapy for Metachromatic Leukodystrophy

, 2021
Tricoli L, Vanderver A, Adang L, et al. Improved Gene Therapy for Metachromatic Leukodystrophy. Molecular Therapy .
Wenger, David, Kurre, Peter, Schlotawa, Lars, Jarocha, Danuta Jadwiga, Chappel, Maxwell, Ahrens-Nicklas, Rebecca, Adang, Laura, Guerra, Amaliris, Triebwasser, Michael, Chappell, Maxwell, Tanaka, Naoto, Rivella, Stefano, Tricoli, Lucas, Radhakrishnan, Karthikeyan, Hurwitz, Stephanie, Breda, Laura, Vanderver, Adeline   +16 more
core   +1 more source

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Metachromatic leukodystrophy

, 2013
Metachromatic leukodystrophy or Scholz′s disease is a rare disorder transmitted as an autosomal recessive trait, leading to demyelination and neurological impairment.
K Subaschandra, P John Mathai, PrimaCheryl D′souza, Prima Cheryl D′souza, PJohn Mathai, Archanaa Vignesh   +5 more
core   +1 more source

Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency

Orphanet Journal of Rare Diseases
Background Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxycholestenoic acid
Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen   +8 more
doaj   +1 more source

Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked adrenoleukodystrophy” (ALD).
Eda G. Kabak, Cecilie Videbaek, Marije M. C. Voermans, Björn M. van Geel, Keith van Haren, Stephan Kemp, Diederik van de Beek, Marc Engelen   +7 more
wiley   +1 more source

Metachromatic Leukodystrophy Variants

, 1993
Clinical, pathological, imaging, and genetic findings in a family with multiple allelic mutations of metachromatic leukodystrophy (MLD) are reported from McGill University, Montreal, and McMaster University, Hamilton ...
J Gordon Millichap
core   +1 more source

Inpatient Deaths in Pediatric Leukodystrophies

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background and Objectives Leukodystrophies are neurogenetic diseases affecting the white matter of the central nervous system. The contributing factors for leukodystrophy mortality are incompletely understood. Our objectives were to characterize inpatient deaths of pediatric leukodystrophies, including demographics and risk factors.
Hannah S. Hart, Kalista L. Vordos, Caroline T. Flood, Darin J. Isakson, Alfredo Novoa, Joshua L. Bonkowsky   +5 more
wiley   +1 more source