Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

Journal of Inherited Metabolic Disease

Volumn 34, Issue 1, 2011, Pages 197-201

  Schara, Ulrike ^a   Von Kleist Retzow, Jürgen Christoph ^b   Lainka, Elke ^a   Gerner, Patrick ^a   Pyle, Angela ^c,d   Smith, Paul M ^c   Lochmüller, Hanns ^d   Czermin, Birgit ^e   Abicht, Angela ^e   Holinski Feder, Elke ^e   Horvath, Rita ^c,d,e  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e Medical Genetic Center   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CREATINE; RIBOFLAVIN; TRANSFER RNA 5 METHYLAMINOMETHYL 2 THIOURIDYLATE METHYLTRANSFERASE; TRANSFER RNA METHYLTRANSFERASE; UBIDECARENONE; UNCLASSIFIED DRUG; MITOCHONDRIAL PROTEIN; TRMU PROTEIN, HUMAN;

ACUTE LIVER FAILURE; ANEMIA; ARTICLE; CASE REPORT; CHILD; COMPLEX I DEFICIENCY; COMPLEX II DEFICIENCY; CYANOSIS; ERYTHROCYTE TRANSFUSION; FEMALE; FEVER; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; INDEL MUTATION; INFANT; JAUNDICE; LACTIC ACIDOSIS; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FIBROSIS; LIVER FUNCTION TEST; MUSCLE BIOPSY; MUSCLE HYPOTONIA; PRESCHOOL CHILD; SUBSTITUTION THERAPY; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; TRMU GENE; VOMITING; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY;

BASE SEQUENCE; CHILD, PRESCHOOL; FEMALE; HUMANS; LIVER CIRRHOSIS; LIVER FAILURE, ACUTE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; TRNA METHYLTRANSFERASES;

EID: 79955799806     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9250-z     Document Type: Article

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