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Results 31 - 40 of 78 for Leukodystrophy
  1. LMNB1 gene 
    ... gene have been found to cause autosomal dominant leukodystrophy with autonomic disease (ADLD). This condition is characterized ... Messenger RNA processing is altered in autosomal dominant leukodystrophy. Hum Mol Genet. 2015 May 15;24(10): ...
    https://medlineplus.gov/genetics/gene/lmnb1 - Genetics
  2. TUBB4A gene 
    ... mutations in the TUBB4A gene cause TUBB4A-related leukodystrophy. This disorder is characterized by abnormalities of the ... nervous system to produce myelin (hypomyelination). TUBB4A-related leukodystrophy has a wide range of severity, with a ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  3. FA2H gene 
    ... demyelination), leading to a loss of white matter (leukodystrophy). Leukodystrophy is likely involved in the development of the ... said to have a disorder called FA2H-related leukodystrophy. However, these conditions are now generally considered to ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  4. Canavan disease 
    ... one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin ... Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  5. Peroxisomal acyl-CoA oxidase deficiency 
    ... cord; loss of white matter is described as leukodystrophy. Leukodystrophy is likely involved in the development of the ... autistic-type regression and a selective pattern of leukodystrophy. J Inherit Metab Dis. 2004;27(1):105- ...
    https://medlineplus.gov/.../peroxisomal-acyl-coa-oxidase-deficiency - Genetics
  6. ACOX1 gene 
    ... cord; loss of white matter is described as leukodystrophy. Leukodystrophy is likely involved in the development of the ... autistic-type regression and a selective pattern of leukodystrophy. J Inherit Metab Dis. 2004;27(1):105- ...
    https://medlineplus.gov/genetics/gene/acox1 - Genetics
  7. Adrenoleukodystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... a group of neurological disorders known as the leukodystrophies, which result from abnormalities in myelin—the white ...
    https://www.ninds.nih.gov/.../disorders/adrenoleukodystrophy - External Health Links
  8. Patient support and advocacy groups 
    ... Alliance Albinism Fellowship (UK) ALD Connect Alex - The Leukodystrophy Charity AliveAndKickn All Things Kabuki Alpha-1 Advocacy ... the United States Tyrosinemia Society Unique (UK) United Leukodystrophy Foundation United Mitochondrial Disease Foundation United MSD Foundation ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  9. D-bifunctional protein deficiency 
    ... cord; loss of white matter is described as leukodystrophy. Abnormal brain development and leukodystrophy likely underlie the neurological abnormalities that occur in ...
    https://medlineplus.gov/.../d-bifunctional-protein-deficiency - Genetics
  10. HSD17B4 gene 
    ... cord; loss of white matter is described as leukodystrophy. Abnormal brain development and leukodystrophy likely underlie the neurological abnormalities that occur in ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
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