Quo vadis: the re-definition of “inborn metabolic diseases”

Journal of Inherited Metabolic Disease

Volumn 38, Issue 6, 2015, Pages 1003-1006

  Morava, Eva ^a,b   Rahman, Shamima ^c   Peters, Verena ^d   Baumgartner, Matthias R ^e   Patterson, Marc ^f   Zschocke, Johannes ^g  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b University Clinic Leuven   (Belgium)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f MAYO CLINIC   (United States)

^g INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; ADENOSINE TRIPHOSPHATASE; CHAPERONE; COBALAMIN DERIVATIVE; GLUTATHIONE; PHOSPHOGLUCOMUTASE; REACTIVE OXYGEN METABOLITE; SIALIC ACID;

BONE DYSPLASIA; CASEINOLYTIC PEPTIDASE B PROTEIN HOMOLOGUE DEFICIENCY; CELL FUNCTION; CELL MIGRATION; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONNECTIVE TISSUE DISEASE; COPPER METABOLISM; CUTIS LAXA; CYANOCOBALAMIN DEFICIENCY; DISEASE CLASSIFICATION; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EDITORIAL; ENDOCYTOSIS; ENZYME DEFICIENCY; FOLLOW UP; GENE MUTATION; GENE THERAPY; GENETIC ASSOCIATION; GENETIC DISORDER; GLUTATHIONE METABOLISM; GLYCOBIOLOGY; HEMATOLOGIC DISEASE; HEMOGLOBINURIA; HUMAN; INBORN ERROR OF METABOLISM; LIPIDOMICS; LIPOGENESIS; LYSOSOME STORAGE DISEASE; MEGDEL SYNDROME; METABOLIC DISORDER; MOLECULAR THERAPY; NEXT GENERATION SEQUENCING; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PHENOTYPE; PHOSPHOGLUCOMUTASE 1 DEFICIENCY; PROTEIN DEGRADATION; PROTEIN GLYCOSYLATION; PROTEIN PROCESSING; PROTEOMICS; SENGER SYNDROME; SOMATIC MUTATION; GENETICS;

CONGENITAL DISORDERS OF GLYCOSYLATION; HUMANS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES;

EID: 84945467509     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9893-x     Document Type: Editorial

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