Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia - A new metabolic disorder

Journal of Inherited Metabolic Disease

Volumn 31, Issue 2, 2008, Pages 151-163

  Tuschl, Karin ^a   Mills, Philippa B ^a   Parsons, Howard ^b   Malone, Marian ^a   Fowler, Darren ^a   Bitner Glindzicz, Maria ^a   Clayton, Peter T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Shaikh Khalifa Medical Centre   (United Arab Emirates)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); ADENOSINE TRIPHOSPHATE; ADENOSINE TRIPHOSPHATE 2A3; ADENOSINE TRIPHOSPHATE 2C2; ALPHA TOCOPHEROL; CARBIDOPA PLUS LEVODOPA; EDETATE CALCIUM DISODIUM; FERROUS FUMARATE; FERROUS ION; MANGANESE; MULTIVITAMIN; PENICILLAMINE; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE 3; SECRETORY PATHWAY CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; ZINC;

ADOLESCENT; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BLOOD ANALYSIS; CASE REPORT; CHELATION THERAPY; CLINICAL FEATURE; CONFERENCE PAPER; CONSANGUINEOUS MARRIAGE; DRUG DOSE REDUCTION; DYSTONIA; ECHOGRAPHY; FAMILY HISTORY; FEMALE; GENE LOCUS; GENOTYPE; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPERMAGNESEMIA; IRON THERAPY; JAUNDICE; LIVER BIOPSY; LIVER CIRRHOSIS; LOW DRUG DOSE; METABOLIC DISORDER; MICROSATELLITE MARKER; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; POLYCYTHEMIA; PORTAL HYPERTENSION; SCHOOL CHILD; SPLENOMEGALY; UNSPECIFIED SIDE EFFECT; VITAMIN SUPPLEMENTATION; WALKING DIFFICULTY;

ADOLESCENT; BASAL GANGLIA; BIOLOGICAL MARKERS; BIOPSY; CALCIUM-TRANSPORTING ATPASES; CHELATING AGENTS; CHILD; DIETARY SUPPLEMENTS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; IRON; LIVER; MAGNETIC RESONANCE IMAGING; MALE; MANGANESE; METABOLIC DISEASES; METABOLISM, INBORN ERRORS; PEDIGREE; PHENOTYPE; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; TREATMENT OUTCOME;

EID: 43149115142     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0813-1     Document Type: Conference Paper

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