Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

Author

KÖLKER, S¹ ; CHRISTENSEN, E² ; MÜLLER, E¹ ; NAUGHTEN, E. R¹¹ ; NEUMAIER-PROBST, E¹² ; OKUN, J. G¹ ; KYLLERMAN, M¹³ ; SURTEES, R. A¹⁴ ; WILCKEN, B¹⁵ ; HOFFMANN, G. F¹ ; BURGARD, P¹ ; LEONARD, J. V³ ; GREENBERG, C. R⁴ ; BURLINA, A. B⁵ ; BURLINA, A. P⁶ ; DIXON, M⁷ ; DURAN, M⁸ ; GOODMAN, S. I⁹ ; KOELLER, D. M¹⁰
[1] Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany
[2] Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
[3] Biochemistry, Endocrinology and Metabolism, and Neurosciences Units, Institute of Child Health, London, United Kingdom
[4] Department of Biochemical and Medical Genetics, Winnipeg Children's Hospital, University of Manitoba, Winnipeg, Manitoba, Canada
[5] Metabolic Unit, Department of Pediatrics, University Hospital of Padova, Padua, Italy
[6] Department of Neuroscience, Neurological Clinic, University Hospital, Padua, Italy
[7] Dietetic Department, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
[8] Academic Medical Centre, Laboratory of Genetic Metabolic Diseases FO-224, Amsterdam, Netherlands
[9] Department of Pediatrics, University of Colorado Health Sciences Center, Denver, Colorado, United States
[10] Departments of Pediatrics, Molecular and Medical Genetics, Doembecher Children's Hospital, Oregon Health and Science University, Portland Oregon, United States
[11] The National Centre of Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland
[12] Department of Neuroradiology, University Hospital Mannheim, University of Heidelberg Medical School, Mannheim, Germany
[13] Department of Paediatric Neurology, Queen Silvia Children's Hospital, Göteborg, Sweden
[14] Department of Neurology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
[15] Biochemical Genetics and Newborn Screening Service, The Children's Hospital at Westmead, University of Sydney, Westmead New South Wales, Australia

Source

Journal of inherited metabolic disease. 2007, Vol 30, Num 1, pp 5-22, 18 p ; ref : 1 p.3/4

CODEN

JIMDDP

ISSN

0141-8955

Scientific domain

Genetics; Nutrition, obesity, metabolic disorders

Publisher

Springer, Dordrecht

Publication country

Netherlands

Document type

Article

Language

English

Keyword (fr)

Acidurie Conduite à tenir Diagnostic Déficit Gestion Glutaryl-CoA dehydrogenase Génétique Maladie héréditaire Métabolisme pathologie Nutrition Recommandation Traitement Type Enzyme Oxidoreductases

Keyword (en)

Aciduria Clinical management Diagnosis Deficiency Management Glutaryl-CoA dehydrogenase Genetics Genetic disease Metabolic diseases Nutrition Recommendation Treatment Type Enzyme Oxidoreductases

Keyword (es)

Aciduria Actitud médica Diagnóstico Déficiencia Gestión Glutaryl-CoA dehydrogenase Genética Enfermedad hereditaria Metabolismo patología Nutrición Recomendación Tratamiento Tipo Enzima Oxidoreductases

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics

Discipline

Medical genetics Metabolic diseases

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

18831253

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