Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach

Journal of Inherited Metabolic Disease

Volumn 30, Issue 6, 2007, Pages 855-864

  Sedel, Frederic ^a   Fontaine, B ^a,b   Saudubray, J M ^c   Lyon Caen, O ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); AMMONIA; ARGINASE; ARGININE; BENZOIC ACID; BETAINE; BIOTIN; BIOTINIDASE; CHENODEOXYCHOLIC ACID; CHOLINERGIC RECEPTOR BLOCKING AGENT; CITRULLINE; CYANOCOBALAMIN; DEXTROMETHORPHAN; DOPAMINE; DOPAMINE RECEPTOR STIMULATING AGENT; FOLIC ACID; FOLINIC ACID; GENE PRODUCT; HOMOCARNOSINE; HOMOCYSTEINE; HYDROXOCOBALAMIN; KETAMINE; LEVODOPA; ORNITHINE; RIBOFLAVIN; STEROL 27 HYDROXYLASE; UNINDEXED DRUG; UREA; ZILEUTON;

BIOTINIDASE DEFICIENCY; BONE MARROW TRANSPLANTATION; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; DOPAMINE METABOLISM; ENZYME DEFICIENCY; FOLIC ACID DEFICIENCY; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HYPERAMMONEMIA; HYPERGLYCINEMIA; HYPERORNITHINEMIA; INBORN ERROR OF METABOLISM; INFECTION; INFLAMMATION; LOW DRUG DOSE; MEDICAL EXAMINATION; MEDICAL SPECIALIST; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARKINSONISM; PATHOPHYSIOLOGY; PHENYLKETONURIA; PROTEIN METHYLATION; PROTEIN RESTRICTION; REVIEW; RISK ASSESSMENT; SJOEGREN LARSSON SYNDROME; SPINAL CORD COMPRESSION; SYMPTOM; UREA CYCLE;

AGE OF ONSET; DECISION TREES; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MALE; METABOLISM, INBORN ERRORS; METHYLATION; MOTOR NEURONS; PARAPARESIS, SPASTIC; SPINAL CORD; SYNDROME;

EID: 37249038098     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0745-1     Document Type: Review

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