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74 results
  1. ... et al 2010 , Lattante et al 2013 ]. Differential diagnosis for TARDBP ... and cerebrotendinous xanthomatosis in individuals with isolated manifestations ...
  2. ... boys presenting with primary adrenal failure: X-linked ... follow the initial symptoms and often lead to total disability within two ...
  3. ... Disorders ), and the adrenomyeloneuropathy variant of X-linked ... Following Initial Diagnosis To establish the extent of disease and needs ...
  4. 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 ...
  5. ... biochemical and/or genetic testing. Table 3. Differential Diagnosis of ... (See X-Linked Adrenoleukodystrophy .) XL Most commonly manifests in late 20s w/ ...
  6. ... between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking. ... present at birth, while others may not cause symptoms until a child becomes a toddler. A few ...
  7. ... cerebral X-linked adrenoleukodystrophy. People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the ...
  8. ... Moser HW. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 2001 Dec;18( ...
  9. ... Genes and Disorders of Interest in the Differential Diagnosis of LMNB1 -Related Autosomal Dominant Leukodystrophy ... progressing paraparesis, sphincter control abnormalities, & sexual ...
  10. ... but they typically do not show signs and symptoms of the condition. Acyl-coenzyme A oxidase deficiency Pseudo-NALD Pseudoadrenoleukodystrophy Pseudoneonatal adrenoleukodystrophy Straight-chain acyl-CoA oxidase deficiency Genetic Testing ...
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