A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy

Brain and Development

Volumn 31, Issue 10, 2009, Pages 775-778

  Yokoi, Kyoko ^a   Ito, Tetsuya ^a   Maeda, Yasuhiro ^b   Nakajima, Yoko ^a   Kurono, Yukihisa ^b   Sugiyama, Naruji ^c   Togari, Hajime ^a  

^a NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^b NAGOYA CITY UNIVERSITY   (Japan)

^c AICHI GAKUIN UNIVERSITY   (Japan)

Author keywords

Acylcarnitine profiles; Biotin; Holocarboxylase synthetase deficiency; Prenatal therapy

Indexed keywords

ACYLCARNITINE; BIOTIN; CARBOXYLASE; CARNITINE; PROPIONYLCARNITINE;

ARTICLE; BLOOD SAMPLING; BRAIN VENTRICLE DILATATION; CASE REPORT; DISORDERS OF CARBOHYDRATE METABOLISM; DRUG RESPONSE; ELECTROSPRAY MASS SPECTROMETRY; FEMALE; FETUS WEIGHT; GESTATION PERIOD; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; INTRAUTERINE GROWTH RETARDATION; JAPANESE; LACTIC ACIDEMIA; METABOLIC ACIDOSIS; NEWBORN; PRENATAL CARE; TANDEM MASS SPECTROMETRY; VITAMIN METABOLISM;

ACETYLCARNITINE; BIOTIN; CARNITINE; FEMALE; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; HUMANS; INFANT, NEWBORN; JAPAN; MULTIPLE CARBOXYLASE DEFICIENCY; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; PRENATAL EXPOSURE DELAYED EFFECTS;

EID: 70350169096     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2008.12.016     Document Type: Article

References (8)

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