Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1802, Issue 11, 2010, Pages 1028-1035

  Engelke, Udo F H ^a   Zijlstra, Fokje S M ^a   Mochel, Fanny ^b   Valayannopoulos, Vassili ^c   Rabier, Daniel ^c   Kluijtmans, Leo A J ^a   Perl, András ^d   Verhoeven Duif, Nanda M ^e   de Lonlay, Pascale ^c   Wamelink, Mirjam M C ^f   Jakobs, Cornelis ^f   Morava, Éva ^a   Wevers, Ron A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d State University of New York Upstate Medical University: College of Medicine   (United States)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

2 Oxoglutaric acid; Citric acid cycle intermediates; Erythronic acid; NMR spectroscopy; Pentose phosphate pathway; Polyols; Sedoheptulose; Transaldolase deficiency

Indexed keywords

2 OXOGLUTARIC ACID; BETA FURANOSE; BIOLOGICAL MARKER; ERYTHRONIC ACID; FUMARIC ACID; MANNOHEPTULOSE; TRANSALDOLASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CARBOHYDRATE ANALYSIS; CHILD; CITRIC ACID CYCLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; ENZYME MECHANISM; FEMALE; HUMAN; INFANT; KIDNEY CONCENTRATING CAPACITY; MALE; MASS FRAGMENTOGRAPHY; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; MOUSE; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SCHOOL CHILD; TRANSALDOLASE DEFICIENCY;

ADOLESCENT; ANIMALS; BIOLOGICAL MARKERS; BUTYRIC ACIDS; CHILD, PRESCHOOL; FUMARATES; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HEPTOSES; HUMANS; INFANT; INFANT, NEWBORN; KETOGLUTARIC ACIDS; MAGNETIC RESONANCE SPECTROSCOPY; MICE; MICE, KNOCKOUT; MITOCHONDRIA; MOLECULAR STRUCTURE; PENTOSE PHOSPHATE PATHWAY; RIBITOL; SUGAR ALCOHOLS; TRANSALDOLASE;

MUS;

EID: 77956651793     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2010.06.007     Document Type: Article

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