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searching for X-linked ichthyosis 6 found (19 total)

Corneal dystrophy (1,603 words) [view diff] exact match in snippet view article find links to article

systemic lysosomal storage diseases, and several skin diseases (X-linked ichthyosis, keratosis follicularis spinolosa decalvans). Historically, an accumulation

Desquamation (835 words) [view diff] exact match in snippet view article find links to article

abnormal desquamation. In pathologic desquamation, such as that seen in X-linked ichthyosis, the stratum corneum becomes thicker (hyperkeratosis), imparting

HDHD1A (443 words) [view diff] exact match in snippet view article find links to article

Schaftingen E (October 2010). "HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase" (PDF). The Biochemical Journal

N-acetylgalactosamine-6-sulfatase (317 words) [view diff] exact match in snippet view article find links to article

of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis". J. Clin. Invest. 67 (5): 1257–62. doi:10.1172/JCI110153. PMC 370691

Cholesterol (8,518 words) [view diff] exact match in snippet view article find links to article

sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis". The Journal of Clinical Investigation. 74 (4): 1414–1421. doi:10

Atrial fibrillation (17,026 words) [view diff] exact match in snippet view article find links to article

al. (2020) Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank. Journal of Medical