1983
Aqueductal stenosis leading to hydrocephalus—an unusual manifestation of neurofibromatosis
Horwich A, Riccardi V, Francke U, Opitz J. Aqueductal stenosis leading to hydrocephalus—an unusual manifestation of neurofibromatosis. American Journal Of Medical Genetics 1983, 14: 577-581. PMID: 6407319, DOI: 10.1002/ajmg.1320140322.Peer-Reviewed Original Research
1978
A father and son with cholestasis and peripheral pulmonic stenosis A distinct form of intrahepatic cholestasis
Riely C, LaBrecque D, Ghent C, Horwich A, Klatskin G. A father and son with cholestasis and peripheral pulmonic stenosis A distinct form of intrahepatic cholestasis. The Journal Of Pediatrics 1978, 92: 406-411. PMID: 632979, DOI: 10.1016/s0022-3476(78)80428-4.Peer-Reviewed Original ResearchConceptsPeripheral pulmonic stenosisIntrahepatic cholestasisPulmonic stenosisBile acidsSerum bile acid levelsSyndrome of cholestasisBile acid levelsAbnormal bile acidsIndividual bile acidsBenign courseCholestasisProgressive formVertical transmissionAcid levelsGenetic etiologyStenosisSyndromeBiochemical featuresPrevious reportsDistinctive patternsPatientsEtiologyDisease