Congenital disorders of glycosylation: The Saudi experience

American Journal of Medical Genetics, Part A

Volumn 173, Issue 10, 2017, Pages 2614-2621

  Alsubhi, Sarah ^a   Alhashem, Amal ^a   Faqeih, Eissa ^b   Alfadhel, Majid ^c   Alfaifi, Abdullah ^c   Altuwaijri, Waleed ^c   Alsahli, Saud ^c   Aldhalaan, Hesham ^d   Alkuraya, Fowzan S ^d,e   Hundallah, Khalid ^a   Mahmoud, Adel ^b   Alasmari, Ali ^b   Mutairi, Fuad Al ^c   Abduraouf, Hanem ^a   AlRasheed, Layan ^a   Alshahwan, Saad ^a   Tabarki, Brahim ^a  

^a The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^d KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

ALG9; CDG; Congenital disorder(s) of glycosylation; severe phenotype; skeletal dysplasia

Indexed keywords

ADOLESCENT; ALG3 GENE; ALG9 GENE; ARTICLE; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COG6 GENE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL HEART DISEASE; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; FOUNDER EFFECT; GENE; GENE FREQUENCY; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; MGAT2 GENE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SAUDI; SCHOOL CHILD; GENETICS; GLYCOSYLATION; HOMOZYGOTE; INFANT; MUTATION; PHENOTYPE; SAUDI ARABIA;

4-COUMAROYL-D-GLUCOSE HYDROXYLASE; ALG3 PROTEIN, HUMAN; ALG9 PROTEIN, HUMAN; ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; COG6 PROTEIN, HUMAN; GLUCOSE TRANSPORTER; MANNOSYLTRANSFERASE; MEMBRANE PROTEIN; MIXED FUNCTION OXIDASE; N ACETYLGLUCOSAMINYLTRANSFERASE; TUMOR MARKER; UDP-GALACTOSE TRANSLOCATOR; VESICULAR TRANSPORT ADAPTOR PROTEIN;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; ADOLESCENT; BIOMARKERS, TUMOR; CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GLYCOSYLATION; HOMOZYGOTE; HUMANS; INFANT; MALE; MANNOSYLTRANSFERASES; MEMBRANE PROTEINS; MIXED FUNCTION OXYGENASES; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PHENOTYPE; RETROSPECTIVE STUDIES; SAUDI ARABIA;

EID: 85026311330     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38358     Document Type: Article

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