- ... A, James P. GeneReviews(®). 1993 Review X-Linked Adrenoleukodystrophy. [GeneReviews(®). 1993] Review X-Linked Adrenoleukodystrophy. Raymond GV, Moser AB, Fatemi A. GeneReviews(®). 1993 ...
- ... features of other genetic conditions, including X-linked adrenoleukodystrophy and autoimmune polyglandular syndrome, type 1, which are ...
- ... other_name >Pseudoadrenoleukodystrophy</other_name><other_name >Pseudoneonatal adrenoleukodystrophy</other_name><other_name >Straight-chain acyl-CoA ...
- ... Metabolic, Inborn C10.228.140.163.100.084 Adrenoleukodystrophy C10.228.140.163.100.168 Cerebral Amyloid ... seases C10.228.140.163.100.362.250 Adrenoleukodystrophy C10.228.140.163.100.362.312 Alexander ...
- ... Death Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Adrenoleukodystrophy Cerebral Amyloid Angiopathy, Familial Galactosemias Hartnup Disease Hepatolenticular ...
- ... Metabolic, Inborn C10.228.140.163.100.084...........................................Adrenoleukodystrophy C10.228.140.163.100.168...........................................Cerebral Amyloid ...
- ... Zellweger spectrum disorder (ZSD) including cerebrohepatorenal syndrome, neonatal adrenoleukodystrophy, and Refsum disease. Among a Dutch cohort of ... Kidney Stone Consortium PH Registry. Evaluations Following Initial Diagnosis The following evaluations are recommended to establish the ...
- ... sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. JIMD Rep 2012;3:79-82. [ PMC free ...
- ... hypoparathyroidism. Addison disease also occurs in X-linked adrenoleukodystrophy . Recessive infantile hypoaldosteronism (corticosterone methyloxidase type II deficiency; ...
- ... clinical features. These include metachromatic leukodystrophy , X-linked adrenoleukodystrophy , childhood ataxia with central nervous system hypomyelination/vanishing ...
74 results