Aminoacylase I deficiency: A novel inborn error of metabolism

Biochemical and Biophysical Research Communications

Volumn 338, Issue 3, 2005, Pages 1322-1326

  Van Coster, R N ^a   Gerlo, E A ^b   Giardina, T G ^c   Engelke, U F ^d   Smet, J E ^a   De Praeter, C M ^a   Meersschaut, V A ^a   De Meirleir, L J ^b   Seneca, S H ^b   Devreese, B ^e   Leroy, J G ^a   Herga, S ^c   Perrier, J P ^c   Wevers, R A ^d   Lissens, W ^b  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c CEMAGREF   (France)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e GHENT UNIVERSITY   (Belgium)

Author keywords

Aminoacylase I; Enzyme deficiency; Laminar cortical necrosis; Messenger RNA; Mutation analysis; N acetylated amino acids; N acetylated proteins; Newborn; Protein expression study; Western blotting

Indexed keywords

ACEGLUTAMIDE; ALANINE; AMINO ACID; AMINOACYLASE; ASPARAGINE DERIVATIVE; GLUTAMIC ACID; GLYCINE; ISOLEUCINE; LEUCINE; METHIONINE; MUTANT PROTEIN; SERINE; THREONINE; VALINE;

AMINO ACID SUBSTITUTION; AMINOACYLASE I DEFICIENCY; ARTICLE; CASE REPORT; CATALYSIS; DNA SEQUENCE; ENZYME ACTIVITY; EPSTEIN BARR VIRUS; GAS CHROMATOGRAPHY; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; LYMPHOBLAST; MALE; MASS SPECTROMETRY; NEWBORN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

AMIDOHYDROLASES; ANIMALS; ARGININE; CELLS, CULTURED; GENOME, HUMAN; HUMANS; INFANT, NEWBORN; LYMPHOCYTES; MALE; METABOLISM, INBORN ERRORS; MUTATION; PEPTIDE HYDROLASES; RNA, MESSENGER;

HUMAN HERPESVIRUS 4;

EID: 27744459327     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.10.126     Document Type: Article

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