Therapy Insight: Inborn errors of metabolism in adult neurology - A clinical approach focused on treatable diseases

Nature Clinical Practice Neurology

Volumn 3, Issue 5, 2007, Pages 279-290

  Sedel, Frédéric ^a   Lyon Caen, Olivier ^a,b   Saudubray, Jean Marie ^c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ARGININE; ARYLBUTYRIC ACID DERIVATIVE; BENZOIC ACID; BETAINE; BIOTIN; CHELATING AGENT; CHENODEOXYCHOLIC ACID; CHOLINERGIC RECEPTOR BLOCKING AGENT; CITRULLINE; COBALAMIN; DEXTROMETHORPHAN; DOPAMINE RECEPTOR STIMULATING AGENT; FOLINIC ACID; GLUCOSE; HEME; HYDROXOCOBALAMIN; KETAMINE; LEVODOPA; MEDIUM CHAIN TRIACYLGLYCEROL; ORNITHINE; PENICILLAMINE; PYRIDOXINE; RETINOL; SERINE; THIAMINE; TRIENTINE; UBIDECARENONE; UNINDEXED DRUG; ZINC;

ABETALIPOPROTEINEMIA; ACUTE BRAIN DISEASE; ACUTE INTERMITTENT PORPHYRIA; ALPHA TOCOPHEROL DEFICIENCY; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BIOTIN RESPONSIVE BASAL GANGLIA DISEASE; BIOTINIDASE DEFICIENCY; CEREBROTENDINOUS XANTHOMATOSIS; CEREBROVASCULAR ACCIDENT; CLINICAL FEATURE; CLINICAL TRIAL; COBALAMIN C DISEASE; CYSTATHIONINE BETA SYNTHASE DEFICIENCY; DIET THERAPY; DRUG MEGADOSE; ENZYME REPLACEMENT; EPILEPSY; EVIDENCE BASED MEDICINE; FABRY DISEASE; FATTY ACID OXIDATION DEFECT; FOLIC ACID DEFICIENCY; GAUCHER DISEASE; GLUCOSE TRANSPORTER 1 DEFICIENCY; GLUTARIC ACIDURIA TYPE 1; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I DEFICIENCY; HUMAN; HYPERGLYCINEMIA; HYPOBETALIPOPROTEINEMIA; INBORN ERROR OF METABOLISM; LEUKOENCEPHALOPATHY; LOW DRUG DOSE; MAPLE SYRUP URINE DISEASE; MENTAL DISEASE; METABOLIC DISORDER; METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; PHENYLKETONURIA; PRIORITY JOURNAL; PROPIONIC ACIDURIA; PYRUVATE DEHYDROGENASE DEFICIENCY; PYRUVOYL TETRAHYDROBIOPTERIN SYNTHASE DEFICIENCY; REFSUM DISEASE; REVIEW; SCREENING TEST; SERINE DEFICIENCY; SPASTIC PARAPLEGIA; SYSTEMATIC REVIEW; TRIPLE H SYNDROME; TYROSINE HYDROLASE DEFICIENCY; UBIDECARENONE DEFICIENCY; UREA CYCLE DISORDER; WILSON DISEASE; X CHROMOSOME LINKAGE;

ADULT; AGE FACTORS; ANIMALS; HUMANS; METABOLIC NETWORKS AND PATHWAYS; METABOLISM, INBORN ERRORS; NERVOUS SYSTEM DISEASES;

EID: 34248551270     PISSN: 1745834X     EISSN: 17458358     Source Type: Journal    
DOI: 10.1038/ncpneuro0494     Document Type: Review

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