Clinical approach to treatable inborn metabolic diseases: An introduction

Journal of Inherited Metabolic Disease

Volumn 29, Issue 2-3, 2006, Pages 261-274

  Saudubray, J M ^a   Sedel, F ^b   Walter, J H ^c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALLOPURINOL; ALPHA TOCOPHEROL; AMINO ACID; ARGININE; ASCORBIC ACID; BENZOIC ACID; BETAINE; BIOTIN; CARNITINE; CHENODEOXYCHOLIC ACID; CHOLESTEROL; CHOLIC ACID; COLESTYRAMINE; CREATINE; DIAZOXIDE; FATTY ACID; GLYCINE; HEME ARGINATE; KETONE; MANNOSE; METRONIDAZOLE; MONOCARBOXYLATE TRANSPORTER; OCTREOTIDE; PENICILLAMINE; PYRUVATE CARBOXYLASE; RETINOL; TETRATHIOMOLYBDATE AMMONIUM; UNINDEXED DRUG;

CHOLESTEROL SYNTHESIS; CLINICAL FEATURE; DIET THERAPY; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; EDITORIAL; EMERGENCY CARE; ENERGY METABOLISM; ENZYME REPLACEMENT; FAILURE TO THRIVE; FATTY ACID OXIDATION; GALACTOSEMIA; GLUCONEOGENESIS; GLYCOGEN STORAGE DISEASE; GLYCOLYSIS; GLYCOSYLATION; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; HYPERINSULINISM; INBORN ERROR OF METABOLISM; LACTIC ACIDEMIA; LYSOSOME STORAGE DISEASE; MELAS SYNDROME; METHYLMALONIC ACIDURIA; NEUROLOGIC DISEASE; NEWBORN PERIOD; NEWBORN SCREENING; PATHOPHYSIOLOGY; PORPHYRIA; PYRUVATE CARBOXYLASE DEFICIENCY;

HUMANS; INFANT, NEWBORN; METABOLIC NETWORKS AND PATHWAYS; METABOLISM, INBORN ERRORS; NEONATAL SCREENING;

EID: 33745059650     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0358-0     Document Type: Editorial

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