Molecular and biochemical investigations in fumarase deficiency

Molecular Genetics and Metabolism

Volumn 88, Issue 2, 2006, Pages 146-152

  Deschauer, M ^a   Gizatullina, Z ^a   Schulze, A ^b   Pritsch, M ^c   Knoppel C ^c   Knape, M ^a   Zierz, S ^a   Gellerich, F N ^a  

^a MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c DRK Kinderklinik Siegen   (Germany)

Author keywords

Biochemical analysis; Fumarase deficiency; Mutation analysis

Indexed keywords

ADENINE; FUMARATE HYDRATASE; THYMINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INHIBITION; FAMILY HISTORY; FUMARATE HYDRATASE DEFICIENCY; GENETIC ANALYSIS; GROWTH RETARDATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; KIDNEY CANCER; LEIOMYOMATOSIS; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RESPIROMETRY; URINALYSIS; URINARY EXCRETION;

AMINO ACID SUBSTITUTION; CELL RESPIRATION; CHILD, PRESCHOOL; FATAL OUTCOME; FUMARATE HYDRATASE; FUMARATES; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LYSINE; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIA; MODELS, MOLECULAR; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; MUTATION; PSYCHOMOTOR DISORDERS;

EID: 33646431129     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.01.007     Document Type: Article

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