No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis [1]

American Journal of Medical Genetics

Volumn 99, Issue 3, 2001, Pages 256-257

  Hennekam, Raoul C M ^a,b   Waterham, Hans R ^a   Wanders, Ron J A ^a   Aronson, Daniel C ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; STEROL;

CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; CLINICAL ARTICLE; DISEASE ASSOCIATION; HUMAN; HYPERTROPHIC PYLORUS STENOSIS; INFANT; INTESTINE MOTILITY; LETTER; METABOLIC DISORDER; NEWBORN; PRIORITY JOURNAL; SYNDROME; THIN LAYER CHROMATOGRAPHY;

CHOLESTEROL; HUMANS; HYPERTROPHY; INFANT; PYLORIC STENOSIS;

EID: 0035869205     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1148>3.0.CO;2-Q     Document Type: Letter

References (9)

1. Genetic evidence for the neuronal nitric synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis
2. Measurement of 3β-hydroxysteroid Δ7-reductase activity in cultured skin fibroblasts utilizing ergosterol as substrate: A new method for die diagnosis of the Smith-Lemh-Opitz syndrome
3. The Smith-Lemli-Opitz syndrome
4. The epidemiology of infantile hypertrophic pyloric stenosis
5. A newly recognized syndrome of multiple congenital anomalies
6. Neuronal nitric oxide synthase, nNos, is not linked to infantile hypertrophic pyloric stenosis in three families
7. Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis
8. Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz, syndrome
9. Smith-Lemli-Opitz syndrome: Deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection