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46 results
  1. ... cerebral X-linked adrenoleukodystrophy. People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the ...
  2. ... html:p><html:p >People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the ... asymptomatic form do not appear to have any symptoms of X-linked adrenoleukodystrophy, but medical testing may show brain or biochemical ...
  3. ... Moser HW. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 2001 Dec;18( ...
  4. ... problems vary. A few children with a clinical diagnosis of neonatal adrenoleukodystrophy had transient leopard spot pigmentary retinopathy [ Lyons et ... molecularly distinct from infantile Refsum disease (see Differential ... adrenoleukodystrophy (X-ALD) (using biochemical testing that also detects ...
  5. ... your health care provider if: Your child develops symptoms of X-linked adrenoleukodystrophy Your child has X-linked adrenoleukodystrophy and is ... of being a carrier for this condition. Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by testing ...
  6. 3314 ... medlineplus.gov ... NALD is an inheritable disorder that affects multiple organs, including the adrenal glands and the white matter of the brain. Some ...
  7. ... but they typically do not show signs and symptoms of the condition. Other Names for This Condition Acyl-coenzyme A oxidase deficiency Pseudo-NALD Pseudoadrenoleukodystrophy Pseudoneonatal adrenoleukodystrophy Straight-chain acyl-CoA oxidase deficiency Additional Information & ...
  8. ... brain white matter on MRI rules out the diagnosis of leukodystrophy. Metabolic investigations rule out other metabolic causes of progressive ARHSP (very long chain fatty acids [see X-Linked Adrenoleukodystrophy ], arylsulfatase A deficiency , mitochondrial dysfunction [see Mitochondrial Disorders ...
  9. ... of restricted diffusion Earlier age of onset of symptoms (mean age 26 yrs); ovarian failure in all women. WM demonstrates rarefaction [ Lakshmanan et al 2017 ]. X-linked disorders X-linked adrenoleukodystrophy ABCD1 Cognitive decline, dementia, spastic paraparesis Neuropathy & slowly ...
  10. Adrenal gland disorders, such as Cushing's Syndrome and Addison's Disease, happen when your glands make too much or not enough hormones. ... What are adrenal ...
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