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:C0751651 (
mitochondrial disease
)
1,844
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Twin brothers and their maternal uncle with a previously undescribed
neonatal progeroid syndrome
are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and IV in muscle but not in liver. Previously described neonatal progeroid syndromes and syndromes featuring pseudo-obstruction are discussed. The two most likely aetiological mechanisms are an X linked single gene disorder or a
mitochondrial disorder
. The evidence for these possibilities is presented.
...
PMID:A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features. 919 79
