The molecular basis of aminoacylase 1 deficiency

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1812, Issue 6, 2011, Pages 685-690

  Sommer, Anke ^a   Christensen, Ernst ^b   Schwenger, Susanne ^c   Seul, Ralf ^d   Haas, Dorothea ^e   Olbrich, Heike ^f   Omran, Heymut ^f   Sass, Jörn Oliver ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^c Kinderzentrum Munchen   (Germany)

^d Marien Hospital Witten   (Germany)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Amidohydrolase; Inborn error of metabolism; N acetyl amino acid; N acetyl glutamic acid; N acetyl methionine; Organic acid

Indexed keywords

AMINOACYLASE; N ACETYLMETHIONINE;

ARTICLE; CASE REPORT; CELL STRAIN HEK293; CHILD; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME LOCALIZATION; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SITE DIRECTED MUTAGENESIS;

AMIDOHYDROLASES; AMINO ACID METABOLISM, INBORN ERRORS; BLOTTING, WESTERN; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN STRUCTURE, QUATERNARY;

ESCHERICHIA COLI;

EID: 79954618636     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2011.03.005     Document Type: Article

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