Search Results - "Altassan R"

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.

Authors: Sulaiman RA Altassan R Alshammari R et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 19; Vol. 20 (1), pp. 594. Date of Electronic Publication: 2025 Nov 19.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

POLG-related disorders: Clinical and molecular Spectrum in the Saudi population.

Authors: Al Mutairi F Joueidi F Al Mutairi ZA et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2026 May 25; Vol. 47, pp. 101322. Date of Electronic Publication: 2026 May 25 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia.

Authors: Yang, Qi He, Wei Zhang, Qiang et al.

Source: Molecular Genetics & Genomic Medicine. Apr2026, Vol. 14 Issue 4, p1-8. 8p.

Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report.

Authors: Krug, Amelie Perlot, Pascale Empain, Aurelie et al.

Source: Journal of Medical Case Reports. 6/22/2025, Vol. 19 Issue 1, p1-6. 6p.

Identification of Two Siblings with PMM2-Congenital Disorder of Glycosylation Using Exome Sequencing in South East of Iran: Clinical and Genetic Findings.

Authors: Mir, Atefeh Khajeh, Ali Song, Yongjun et al.

Source: Zahedan Journal of Research in Medical Sciences. Apr2026, Vol. 28 Issue 2, p1-8. 8p.

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

Authors: Salmaninejad, Arash Seyedtaghia, Mohammad Reza Bereshneh, Ali Hosseini et al.

Source: Molecular Genetics & Genomic Medicine. Mar2026, Vol. 14 Issue 3, p1-12. 12p.

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2–Congenital Disorder of Glycosylation.

Authors: Ødum, Sofie-Louise Feentved Grønborg, Sabine W Main, Katharina M et al.

Source: JCEM Case Reports. Nov2025, Vol. 3 Issue 11, p1-6. 6p.

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.

Authors: Mukai, Takeo Kato, Shota Tanaka, Hiroyuki et al.

Source: Molecular Genetics & Genomic Medicine. Jul2024, Vol. 12 Issue 7, p1-6. 6p.

Hub Gene Clusters Reveal Dysregulated Synaptic Neurotransmitter Signaling Pathways and Drug Repurposing Prospect in Brain Tumors.

Authors: Villanueva, Brian Harvey Avanceña Tayo, Lemmuel L. Chuang, Kuo-Pin

Source: Onco. Jun2026, Vol. 6 Issue 2, p22. 26p.

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Authors: Zhang, Kaichuang Lu, Deyun Liang, Lili et al.

Source: Orphanet Journal of Rare Diseases. 10/9/2025, Vol. 20 Issue 1, p1-9. 9p.

Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review.

Authors: Gandoy-Fieiras, N. Quiroga, M. I. Sánchez, L.

Source: Orphanet Journal of Rare Diseases. 9/24/2025, Vol. 20 Issue 1, p1-14. 14p.

Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.

Authors: Liu, Juan Hu, Jihong Duan, Yaqin et al.

Source: Neurological Sciences. Jun2025, Vol. 46 Issue 6, p2809-2817. 9p.

A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.

Authors: AlTassan, Ruqaiah AlQudairy, Hanan Saydo, Biam et al.

Source: International Journal of Molecular Sciences. Jun2025, Vol. 26 Issue 11, p5296. 13p.

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.

Authors: Radenkovic, Silvia Adant, Isabelle Bird, Matthew J. et al.

Source: Cells (2073-4409). May2025, Vol. 14 Issue 9, p638. 18p.

Endocrine Implications of Congenital Disorders of Glycosylation.

Authors: Ünsal, Yağmur Özön, Zeynep Alev

Source: Journal of Clinical Research in Pediatric Endocrinology. 2026, Vol. 18 Issue 1, p11-29. 19p.

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes.

Authors: Radenkovic S Preston G Budhraja R et al.

Source: Journal of translational medicine [J Transl Med] 2026 Feb 21; Vol. 24 (1). Date of Electronic Publication: 2026 Feb 21.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE

The Role of the Pentose Phosphate Pathway in Cardiovascular Diseases.

Authors: Chen Z Zhang Y Qian C et al.

Source: Cardiovascular drugs and therapy [Cardiovasc Drugs Ther] 2026 Jun; Vol. 40 (3), pp. 1125-1143. Date of Electronic Publication: 2025 Oct 04.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Kluwer Academic For The International Society For Cardiovascular Pharmacotherapy Country of Publication: United States NLM ID: 8712220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7241 (Electronic) Linking ISSN: 09203206 NLM ISO Abbreviation: Cardiovasc Drugs Ther Subsets: MEDLINE

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

Authors: Shah R Eklund EA Radenkovic S et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108472. Date of Electronic Publication: 2024 Apr 23.

Publication Type: Journal Article; Review

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.

Authors: Al-Ahmari, Abdulaziz A.^1,2 Aahmari@iau.edu.sa

Source: American Journal of Case Reports. 11/3/2025, Vol. 26, p1-4. 4p.

A challenging metabolic acidosis management case in a young patient with transalodase defeciency, T1DM, and pRTA.

Authors: AlAkeel, Hajar AlZaben, Abdullah AlAtawi, Mohsen et al.

Source: Journal of Biochemical & Clinical Genetics. 2025, Vol. 8 Issue 1, p48-51. 4p.