Demographic and clinical features of glutaric acidemia type 1; A high frequency among isolates in Upper Egypt

Egyptian Journal of Medical Human Genetics

Volumn 15, Issue 2, 2014, Pages 187-192

  Zaki, Osama K ^a   Elabd, Heba Salah ^a   Ragheb, Shaimaa Gad ^a   Ghoraba, Dina A ^a   Elghawaby, Ahmed Essam ^a  

^a AIN SHAMS UNIVERSITY   (Egypt)

Author keywords

Consanguinity; Egypt; Genetics; Glutaric acidemia type 1; Inborn errors of metabolism; Newborn screening

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHRISTIAN; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONVULSION; DEMOGRAPHY; DETERIORATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSTONIA; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FEMALE; FEVER; GENE FREQUENCY; GLUTARIC ACIDEMIA TYPE 1; HEALTH EDUCATION; HUMAN; LABORATORY DIAGNOSIS; MACROCEPHALY; MALE; MASS SCREENING; NEWBORN SCREENING; ONSET AGE; PRESCHOOL CHILD;

EID: 84897867985     PISSN: 11108630     EISSN: 20902441     Source Type: Journal    
DOI: 10.1016/j.ejmhg.2014.01.001     Document Type: Article

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