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

Author

MITCHELL, J¹ ; PUNTHAKEE, Z¹ ; RILEY, P⁸ ; POLYCHRONAKOS, C^{1 9} ; LO, B² ; BERNARD, C³ ; CHONG, K² ; NEWMAN, C⁴ ; CARTIER, L⁵ ; DESILETS, V⁵ ; CUTZ, E⁶ ; HANSEN, I. L⁷
[1] Division of Endocrinology and Metabolism, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada
[2] Division of Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
[3] Department of Pathology, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada
[4] Neonatal Intensive Care Unit, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
[5] Prenatal Diagnosis Unit, Montreal Children's Hospital, McGill University, Montreal, Quebec, Montreal, Canada
[6] Division of Pathology, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
[7] Division of Endocrinology, Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, United States
[8] Division of Neonatology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada
[9] Pediatric Endocrinology, McGill University Health Center, Montréal, Québec, Canada

Source

Diabetologia (Berlin). 2004, Vol 47, Num 12, pp 2160-2167, 8 p ; ref : 27 ref

ISSN

0012-186X

Scientific domain

Endocrinology; Nutrition, obesity, metabolic disorders

Publisher

Springer, Berlin

Publication country

Germany

Document type

Article

Language

English

Author keyword

Duodenal atresia Gall bladder hypoplasia Glucokinase Neonatal diabetes PDX-1 PLAGL-1 Pancreatic hypoplasia Syndrome

Keyword (fr)

Caractère autosomique Diabète Enfant Etiologie Etude cas Glucokinase Hypoplasie Intestin Néonatal Pancréas Vésicule biliaire Appareil digestif Endocrinopathie Enzyme Homme Malformation Transferases

Keyword (en)

Autosomal character Diabetes mellitus Child Etiology Case study Glucokinase Hypoplasia Gut Neonatal Pancreas Gallbladder Digestive system Endocrinopathy Enzyme Human Malformation Transferases

Keyword (es)

Carácter autosómico Diabetes Niño Etiología Estudio caso Glucokinase Hipoplasia Intestino Neonatal Páncreas Vesícula biliar Aparato digestivo Endocrinopatía Enzima Hombre Malformación Transferases

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21E Endocrine pancreas. Apud cells (diseases) / 002B21E01 Diabetes. Impaired glucose tolerance / 002B21E01A Etiopathogenesis. Screening. Investigations. Target tissue resistance

Discipline

Endocrinopathies

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

16399808

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS