Molecular neonatal screening for homocystinuria in the Qatari population

Human Mutation

Volumn 30, Issue 6, 2009, Pages 1021-1022

  Zschocke, Johannes ^a,c   Kebbewar, Moustafa ^a   Gan Schreier, Hongying ^a   Fischer, Christine ^a   Fang Hoffmann, Junmin ^a   Wilrich, Julia ^a   Abdoh, Ghassan ^b   Ben Omran, Tawfeg ^b   Shahbek, Noora ^b   Lindner, Martin ^a   Al Rifai, Hilal ^b   Al Khal, Abdul Latif ^b   Hoffmann, Georg F ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b HAMAD MEDICAL CORPORATION   (Qatar)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

CBS; Homocystinuria; Molecular neonatal screening; Qatar

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

ARTICLE; DNA EXTRACTION; GENE FREQUENCY; GENE MUTATION; HETEROZYGOTE; HOMOCYSTINURIA; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QATAR;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; QATAR;

EID: 66349127943     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20994     Document Type: Article

References (6)

1. Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB. 2004. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 113:1573-1581. (Pubitemid 38697961)
2. Dhondt JL. 2007. Neonatal screening: from the 'Guthrie age' to the 'genetic age'. J Inherit Metab Dis 30:418-422.
3. El-Said MF, Badii R, Bessisso MS, Shahbek N, El-Ali MG, El-Marikhie M, El-Zyoid M, Salem MS, Bener A, Hoffmann GF, Zschocke J. 2006. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. Hum Mutat 27:719.
4. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. 2006. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 117:1915-1921. (Pubitemid 46071234)
5. Ranieri E, Ryall RG, Morris CP, Nelson PV, Carey WF, Pollard AC, Robertson EF. 1991. Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis. BMJ 302:1237-1240.
6. Yap S, Rushe H, Howard PM, Naughten ER. 2001. The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 24:437-447. (Pubitemid 32894513)