Management of a patient with holocarboxylase synthetase deficiency

Molecular Genetics and Metabolism

Volumn 95, Issue 4, 2008, Pages 201-205

  Van Hove, Johan L K ^a   Josefsberg, Sagi ^a   Freehauf, Cynthia ^a   Thomas, Janet A ^a   Thuy, Le Phuc ^b   Barshop, Bruce A ^b   Woontner, Michael ^a   Mock, Donald M ^c   Chiang, Pei Wen ^a   Spector, Elaine ^a   Meneses Morales, Iván ^d   Cervantes Roldán, Rafael ^d   León Del Río, Alfonso ^d  

^a Children's Hospital Colorado   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^d UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

Author keywords

Biotin; Carboxylase; Holocarboxylase synthetase; Kinetics

Indexed keywords

ACYLCARNITINE; ASPARTIC ACID; BIOTIN; CARNITINE; GLYCINE; PROPIONYLCARNITINE;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHEMICAL ANALYSIS; DISORDERS OF CARBOHYDRATE METABOLISM; DRUG BLOOD LEVEL; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; HUMAN; HUMAN TISSUE; LABORATORY TEST; METABOLIC DISORDER; MUTATION; NEONATAL RESPIRATORY DISTRESS SYNDROME; NERVE CELL DIFFERENTIATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SKIN BIOPSY; SKIN FIBROBLAST; THORAX RADIOGRAPHY; WESTERN BLOTTING;

AMINO ACID SEQUENCE; BIOTIN; CARBON-NITROGEN LIGASES; CELLS, CULTURED; FEMALE; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; HUMANS; INFANT, NEWBORN; KINETICS; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ALIGNMENT;

EID: 56149089771     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.09.006     Document Type: Article

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