Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0042963 (
vomiting
)
31,883
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We have studied an 8-year-old girl with ornithine transcarbamylase deficiency with many of the manifestations of Rett syndrome. She is profoundly mentally retarded and microcephalic after normal development in early childhood. Seizures, hyperventilation, ataxia,
amimia
, and "hand wringing" stereotypies are present. The distinguishing characteristic is the history of recurrent episodes of
vomiting
and hyperammonemic coma. This case points to the possible existence of genocopies of Rett syndrome.
...
PMID:A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations. 308 94
