Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis

Clinical Biochemistry

Volumn 42, Issue 1-2, 2009, Pages 27-33

  García Villoria, Judit ^a   Navarro Sastre, Aleix ^a   Fons, Carme ^b   Pérez Cerdá, Celia ^c   Baldellou, Antonio ^d   Fuentes Castelló, Miguel Ángel ^e   González, Inmaculada ^f   Hernández Gonzalez, Arturo ^g   Fernández, Cristina ^a   Campistol, Jaume ^b   Delpiccolo, Carina ^h   Cortés, Nuria ^h   Messeguer, Angel ^h   Briones, Paz ^a,h   Ribes, Antonia ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^e HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^f HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^g HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

^h DEPARTMENT OF ENVIRONMENTAL CHEMISTRY   (Spain)

Author keywords

17HSD10; ABAD; ERAB; HADH2; MHBD deficiency

Indexed keywords

2 ETHYLHYDRACRYLIC ACID; 2 METHYL 3 HYDROXYBUTYRYL COENZYME A DEHYDROGENASE; 3 HYDROXY 2 METHYLBUTYRIC ACID; ACRYLIC ACID DERIVATIVE; BUTYRIC ACID DERIVATIVE; CARBOXYLIC ACID; GENOMIC DNA; GLYCINE DERIVATIVE; ISOLEUCINE; LACTIC ACID; MITOCHONDRIAL ENZYME; TIGLYLGLYCINE; UNCLASSIFIED DRUG;

AMINO ACID METABOLISM; AMINO ACID SEQUENCE; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; ENZYME DEFICIENCY; FAMILY HISTORY; FEMALE; FIBROBLAST CULTURE; GAS CHROMATOGRAPHY; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INBORN ERROR OF METABOLISM; INFANT; LACTATE BLOOD LEVEL; MALE; MASS SPECTROMETRY; MENTAL DEFICIENCY; NEWBORN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; URINALYSIS; WESTERN BLOTTING; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ALCOHOL OXIDOREDUCTASES; AMINO ACID METABOLISM, INBORN ERRORS; FEMALE; GLYCINE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; HYDROXYBUTYRATES; INFANT; INFANT, NEWBORN; MALE; VALERATES;

EID: 57649233373     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2008.10.006     Document Type: Article

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