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Items: 4

1.

Aspartylglycosaminuria

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002). [from OMIM]

MedGen UID:
78649
Concept ID:
C0268225
Disease or Syndrome
2.

Oligosacchariduria

Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. [from HPO]

MedGen UID:
869388
Concept ID:
C4023815
Finding
3.

Angiokeratoma corporis diffusum

MedGen UID:
504709
Concept ID:
CN001006
Finding
4.

Vacuolated lymphocytes

The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. [from HPO]

MedGen UID:
332307
Concept ID:
C1836855
Finding
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