od strane Radmin | мар 31, 2023 | Bolesti
Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.
od strane Radmin | мар 31, 2023 | Bolesti
COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
od strane Radmin | мар 31, 2023 | Bolesti
Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes...
od strane Radmin | мар 31, 2023 | Bolesti
Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language...
od strane Radmin | мар 31, 2023 | Bolesti
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od strane Radmin | мар 31, 2023 | Bolesti
Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal...
