Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

Doris A. Stoffers, Noah T. Zinkin, V Stanojević et al. · Nature Genetics · 1997 · 1.1K citations

Medicine, Genetics, Molecular Genetics +12

Neonatal Diabetes Mellitus Due to Complete Glucokinase Deficiency

Pål R. Njølstad, Antonio L. Cuesta‐Muñoz, Lise Bjørkhaug et al. · New England Journal of Medicine · 2001 · 428 citations · Full text

Medicine, Endocrinology, Pediatrics +15

Outcome of Pregnancies at Risk for Neonatal Hemochromatosis Is Improved by Treatment With High-Dose Intravenous Immunoglobulin

Peter F. Whitington, Susan Kelly · PEDIATRICS · 2008 · 148 citations

Life Sciences, Immunology, Obstetrics +9

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism

Journal of Medical Genetics · 2001 · 112 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

John J. Mitchell, Zubin Punthakee, Bernard Lo et al. · Diabetologia · 2004 · 111 citations · Full text

Medicine, Endocrinology, Pediatrics +17