Literature DB >> 22105986

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.

Anas M Alazami1, Dorota Monies, Brian F Meyer, Fatema Alzahrani, Mais Hashem, Mustafa A Salih, Fowzan S Alkuraya.   

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Year:  2011        PMID： 22105986     DOI： 10.1002/ajmg.a.34347

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

Authors:  Ranad Shaheen; Zuhair Rahbeeni; Amal Alhashem; Eissa Faqeih; Qi Zhao; Yong Xiong; Agaadir Almoisheer; Sarah M Al-Qattan; Halima A Almadani; Noufa Al-Onazi; Badi S Al-Baqawi; Mohammad Ali Saleh; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2014-05-15       Impact factor: 11.025

2.  Human N-acetylglucosaminyltransferase II substrate recognition uses a modular architecture that includes a convergent exosite.

Authors:  Renuka Kadirvelraj; Jeong-Yeh Yang; Justin H Sanders; Lin Liu; Annapoorani Ramiah; Pradeep Kumar Prabhakar; Geert-Jan Boons; Zachary A Wood; Kelley W Moremen
Journal:  Proc Natl Acad Sci U S A       Date:  2018-04-16       Impact factor: 11.205

3.  Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Authors:  Wafaa Eyaid; Talal Al Harbi; Shamsa Anazi; Mirjam M C Wamelink; Cornelis Jakobs; Mohammad Al Salammah; Mohammed Al Balwi; Majid Alfadhel; Fowzan S Alkuraya
Journal:  J Inherit Metab Dis       Date:  2013-01-12       Impact factor: 4.982

4.  Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.

Authors:  Ranad Shaheen; Nisha Patel; Hanan Shamseldin; Fatema Alzahrani; Ruah Al-Yamany; Agaadir ALMoisheer; Nour Ewida; Shamsa Anazi; Maha Alnemer; Mohamed Elsheikh; Khaled Alfaleh; Muneera Alshammari; Amal Alhashem; Abdullah A Alangari; Mustafa A Salih; Martin Kircher; Riza M Daza; Niema Ibrahim; Salma M Wakil; Ahmed Alaqeel; Ikhlas Altowaijri; Jay Shendure; Amro Al-Habib; Eissa Faqieh; Fowzan S Alkuraya
Journal:  Genet Med       Date:  2015-12-03       Impact factor: 8.822

5.  Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.

Authors:  Sheri A Poskanzer; Matthew J Schultz; Coleman T Turgeon; Noemi Vidal-Folch; Kris Liedtke; Devin Oglesbee; Dimitar K Gavrilov; Silvia Tortorelli; Dietrich Matern; Piero Rinaldo; James T Bennett; Jenny M Thies; Irene J Chang; Anita E Beck; Kimiyo Raymond; Eric J Allenspach; Christina Lam
Journal:  Am J Med Genet A       Date:  2020-10-12       Impact factor: 2.802
  5 in total

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