Mitochondrial factors and VACTERL association-related congenital malformations

Molecular Syndromology

Volumn 4, Issue 1-2, 2013, Pages 63-73

  Siebel, S ^a   Solomon, B D ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Congenital malformations; Inborn errors of metabolism; Mitochondrial dysfunction; Respiratory chain; VACTERL; VATER

Indexed keywords

ACYLCARNITINE; AMINO ACID; AMMONIA; CARBOXYLIC ACID; CARNITINE; ELECTROLYTE; GLUCOSE; LACTIC ACID; PYRUVIC ACID; FREE RADICAL; MITOCHONDRIAL DNA; SUCCINATE DEHYDROGENASE (UBIQUINONE);

AMINO ACID BLOOD LEVEL; AMMONIA BLOOD LEVEL; ANION GAP; ANUS ATRESIA; ARTICLE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CORPUS CALLOSUM AGENESIS; CYTOCHROME C OXIDASE DEFICIENCY; ELECTROLYTE BLOOD LEVEL; EMBRYO DEVELOPMENT; ESOPHAGUS ATRESIA; GLUCOSE BLOOD LEVEL; HUMAN; KIDNEY MALFORMATION; LIMB DEFECT; LIPID BLOOD LEVEL; MELAS SYNDROME; MITOCHONDRIAL GENETICS; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NONHUMAN; OXIDATIVE STRESS; PRIORITY JOURNAL; SYNDROME VATER; TRACHEOESOPHAGEAL FISTULA; UREA NITROGEN BLOOD LEVEL; UROGENITAL TRACT MALFORMATION; VERTEBRA MALFORMATION; AMINO ACID METABOLISM; DAUGHTER CELL; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; HETEROPLASMY; INBORN ERROR OF METABOLISM; LIMB MALFORMATION; LIPID METABOLISM; MITOCHONDRIAL DNA REPLICATION; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PYLORUS STENOSIS; RESPIRATORY CHAIN; UREA CYCLE DISORDER; VACTERL ASSOCIATION;

EID: 84874035053     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000346301     Document Type: Article

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