Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Human Mutation

Volumn 35, Issue 4, 2014, Pages 470-477

  García Cazorla, Angels ^a   Oyarzabal, Alfonso ^b   Fort, Joana ^c   Robles, Concepción ^d   Castejón, Esperanza ^a   Ruiz Sala, Pedro ^b   Bodoy, Susanna ^c   Merinero, Begoña ^b   Lopez Sala, Anna ^a   Dopazo, Joaquín ^e,f   Nunes, Virginia ^g   Ugarte, Magdalena ^b   Artuch, Rafael ^a   Palacín, Manuel ^c   Rodríguez Pombo, Pilar ^b   Alcaide, Patricia ^b   Navarrete, Rosa ^b   Sanz, Paloma ^b   Font Llitjós, Mariona ^e   Vilaseca, Ma Antonia ^f   Ormaizabal, Aida ^f   Pristoupilova, Anna ^h   Agulló, Sergi Beltran ^h   more..

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^e CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^f CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^g UNIVERSITY OF BARCELONA   (Spain)

^h National Center of Genomic Analysis   (Spain)

Author keywords

BCKDK; Branched chain keto acid dehydrogenase complex; Dietary treatment; Neurobehavioral deficit

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); BRANCHED CHAIN AMINO ACID; BRANCHED CHAIN KETO ACID DEHYDROGENASE KINASE; GENOMIC DNA; ISOLEUCINE; LEUCINE; UNCLASSIFIED DRUG; VALINE; (3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE)) KINASE; PROTEIN KINASE;

AMINO ACID METABOLISM; ARTICLE; ATTENTION; BODY FLUID; BRANCHED CHAIN KETO ACID DEHYDROGENASE KINASE GENE; CASE REPORT; CATABOLISM; CHILD; CLINICAL EXAMINATION; COMPUTER MODEL; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIET THERAPY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; EXON; GASTROSTOMY; GENE; HOMOZYGOTE; HUMAN; HUMAN CELL; HYPERACTIVITY; INFANT; INTERPERSONAL COMMUNICATION; IRRITABILITY; MALE; MICROCEPHALY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DIET; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; SKIN FIBROBLAST; SOCIALIZATION; SPLICING DEFECT; BLOOD; DEFICIENCY; ENZYMOLOGY; FIBROBLAST; GENETICS; PEDIATRICS;

AMINO ACIDS, BRANCHED-CHAIN; DEVELOPMENTAL DISABILITIES; FIBROBLASTS; HUMANS; MALE; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PEDIATRICS; PROTEIN KINASES;

EID: 84896137184     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22513     Document Type: Article

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