Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

Clinical Genetics

Volumn 85, Issue 6, 2014, Pages 555-561

  Ventura, F V ^a,b   Leandro, P ^a,b   Luz, A ^a,b   Rivera, I A ^a,b   Silva, M F B ^a,b   Ramos, R ^a,b   Rocha, H ^c   Lopes, A ^c   Fonseca, H ^c   Gaspar, A ^d   Diogo, L ^e   Martins, E ^f   Leao Teles E ^g   Vilarinho, L ^c   Tavares de Almeida, I ^a  

^a Faculty of Pharmacy   (Portugal)

^b RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^c NATIONAL INSTITUTE OF HEALTH   (Portugal)

^d HOSPITAL DE SANTA MARIA   (Portugal)

^e Children's Hospital of Coimbra   (Portugal)

^f HOSPITAL MARIA PIA   (Portugal)

^g HOSPITAL DE SÃO JOÃO   (Portugal)

Author keywords

ACADM; Inborn errors of metabolism; MCAD; Mitochondrial fatty acid oxidation disorders; Newborn screening

Indexed keywords

ADIPIC ACID; ALKANOIC ACID; CIS 4 DECENOIC ACID; CREATININE; GENOMIC DNA; LAURIC ACID; SEBACIC ACID; SUBERIC ACID; UNCLASSIFIED DRUG; ACYL COENZYME A DEHYDROGENASE;

ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENOTYPE; GIPSY; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MASS FRAGMENTOGRAPHY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; PORTUGAL; PRIORITY JOURNAL; RETROSPECTIVE STUDY; ADULT; DEFICIENCY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; EPIDEMIOLOGY; ETHNIC GROUP; ETHNOLOGY; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

ACYL-COA DEHYDROGENASE; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; ETHNIC GROUPS; FEMALE; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LINKAGE DISEQUILIBRIUM; LIPID METABOLISM, INBORN ERRORS; MALE; MUTATION; NEONATAL SCREENING; PORTUGAL; RETROSPECTIVE STUDIES;

EID: 84899493496     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12227     Document Type: Article

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