Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur

Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

G. H. Watson, Vincent T. Miller · Archives of Disease in Childhood · 1973 · 266 citations · Full text

Medicine, Genetics, Pediatrics +17

Hormonal Changes in Puberty I. Correlation of Serum Luteinizing Hormone and Follicle Stimulating Hormone with Stages of Puberty, Testicular Size, and Bone Age in Normal Boys

Ian M. Burr, Pierre C. Sizonenko, Selna L. Kaplan et al. · Pediatric Research · 1970 · 153 citations

Medicine, Endocrinology, Pediatrics +17

XANTHOMATOUS BILIARY CIRRHOSIS (A CLINICAL SYNDROME)

Heber MacMahon, S. J. Thannhauser · Annals of Internal Medicine · 1949 · 103 citations

Medicine, Dermatology, Pathology +17

Byler's disease: Fatal familial intrahepatic cholestasis in an Amish kindred

Robert Clayton, Frank L. Iber, Boris H. Ruebner et al. · The Journal of Pediatrics · 1965 · 93 citations

Medicine, Genetics, Pathology +10

Hereditary recurrent intrahepatic cholestasis from birth.

Ö Aagenaes, C. B. van der Hagen, SigvaldB. Refsum · Archives of Disease in Childhood · 1968 · 89 citations · Full text

Medicine, Genetics, Pediatrics +12