Altassan R - Search Results

1

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.

Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E. Shah R, et al. Among authors: altassan r. Mol Genet Metab. 2024 Apr 23;142(2):108472. doi: 10.1016/j.ymgme.2024.108472. Online ahead of print. Mol Genet Metab. 2024. PMID: 38703411 Review.

2

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.

Altassan R, AlQudairy H, AlJebreen S, AlMuhaizea M, Al-Hindi H, Pena-Guerra KA, Ghebeh H, Almzroua A, Albakheet A, AlDosary M, Colak D, Arold ST, Kaya N. Altassan R, et al. Am J Med Genet A. 2024 Apr;194(4):e63498. doi: 10.1002/ajmg.a.63498. Epub 2023 Dec 21. Am J Med Genet A. 2024. PMID: 38129970

3

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.

Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E. Muthusamy K, et al. Among authors: altassan r. Genet Med. 2024 Feb;26(2):101027. doi: 10.1016/j.gim.2023.101027. Epub 2023 Nov 10. Genet Med. 2024. PMID: 37955240

4

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.

Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E. Altassan R, et al. Mol Genet Metab. 2023 Nov;140(3):107688. doi: 10.1016/j.ymgme.2023.107688. Epub 2023 Aug 23. Mol Genet Metab. 2023. PMID: 37647829 Review.

5

The clinical utility of rapid exome sequencing in a consanguineous population.

Monies D, Goljan E; Rapid Exome Consortium; Assoum M, Albreacan M, Binhumaid F, Subhani S, Boureggah A, Hashem M, Abdulwahab F, Abuyousef O, Temsah MH, Alsohime F, Kelaher J, Abouelhoda M, Meyer BF, Alkuraya FS. Monies D, et al. Genome Med. 2023 Jun 21;15(1):44. doi: 10.1186/s13073-023-01192-5. Genome Med. 2023. PMID: 37344829 Free PMC article.

6

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).

Altassan R, Albert-Brotons DC, Alowain M, Al-Halees Z, Jaeken J, Morava E. Altassan R, et al. JIMD Rep. 2022 Nov 22;64(2):123-128. doi: 10.1002/jmd2.12350. eCollection 2023 Mar. JIMD Rep. 2022. PMID: 36873091 Free PMC article.

7

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).

Balakrishnan B, Altassan R, Budhraja R, Liou W, Lupo A, Bryant S, Mankouski A, Radenkovic S, Preston GJ, Pandey A, Boudina S, Kozicz T, Morava E, Lai K. Balakrishnan B, et al. Among authors: altassan r. Transl Res. 2023 Jul;257:1-14. doi: 10.1016/j.trsl.2023.01.004. Epub 2023 Jan 26. Transl Res. 2023. PMID: 36709920

8

Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.

AlTassan R, AlQudairy H, Alromayan R, Alfalah A, AlHarbi OA, González-Álvarez AC, Arold ST, Kaya N. AlTassan R, et al. Genes (Basel). 2022 Nov 30;13(12):2252. doi: 10.3390/genes13122252. Genes (Basel). 2022. PMID: 36553519 Free PMC article.

9

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.

Altassan R, Sulaiman RA, Alfalah A, Alwagiat W, Megdad E, Alqasabi D, Handoom B, Almesned M, Al-Amri H, Alhassnan Z, Alsayed MA, Alzaidan H, Rahbeeni Z, Derar N, Al-Owain M, Albanyan E. Altassan R, et al. Eur J Med Genet. 2022 Nov;65(11):104602. doi: 10.1016/j.ejmg.2022.104602. Epub 2022 Aug 30. Eur J Med Genet. 2022. PMID: 36049607 Free PMC article.

10

Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.

Altassan R, Qudair A, Alokaili R, Alhasan K, Faqeih EA, Alhashem A, Alowain M, Alsayed M, Rahbeeni Z, Albadi L, Alkuraya FS, Anderson EN, Rajan D, Pandey UB. Altassan R, et al. Am J Med Genet A. 2022 Oct;188(10):2932-2940. doi: 10.1002/ajmg.a.62894. Epub 2022 Jul 21. Am J Med Genet A. 2022. PMID: 35861185

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