- TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia - GeneReviews® - NCBI Bookshelf... et al 2010 , Lattante et al 2013 ]. Differential diagnosis for TARDBP ... and cerebrotendinous xanthomatosis in individuals with isolated manifestations ...
- ... boys presenting with primary adrenal failure: X-linked ... follow the initial symptoms and often lead to total disability within two ...
- ... Disorders ), and the adrenomyeloneuropathy variant of X-linked ... Following Initial Diagnosis To establish the extent of disease and needs ...
- 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 ...
- ... biochemical and/or genetic testing. Table 3. Differential Diagnosis of ... (See X-Linked Adrenoleukodystrophy .) XL Most commonly manifests in late 20s w/ ...
- ... 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 ...
- ... cerebral X-linked adrenoleukodystrophy. People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the ...
- ... Moser HW. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 2001 Dec;18( ...
- ... Genes and Disorders of Interest in the Differential Diagnosis of LMNB1 -Related Autosomal Dominant Leukodystrophy ... progressing paraparesis, sphincter control abnormalities, & sexual ...
- ... 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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