"Mol Genet Metab Rep"[jour] - Search Results

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Results by year

Year	Number of Results
2013	2
2014	80
2015	86
2016	102
2017	121
2018	103
2019	116
2020	154
2021	143
2022	116
2023	96
2024	156
2025	97

1,250 results

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Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy.

Lang SH, Salgado AC, Snyder MT, Rawls-Castillo B, Williams A, Gijavanekar C, Elsea SH, Wang X, Tessier MEM, Soler-Alfonso C, Scaglia F. Lang SH, et al. Mol Genet Metab Rep. 2025 Oct 27;45:101270. doi: 10.1016/j.ymgmr.2025.101270. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41215814 Free PMC article.

Psychosocial adaptation of children and adolescents with phenylketonuria in Korea.

Lee J, Suh ES. Lee J, et al. Mol Genet Metab Rep. 2025 Oct 19;45:101272. doi: 10.1016/j.ymgmr.2025.101272. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41158985 Free PMC article.

Renoprotective effects of SGLT2 inhibitors in patients with Fabry disease.

Okamoto H, Goto S, Fujita M, Fujii H. Okamoto H, et al. Mol Genet Metab Rep. 2025 Oct 17;45:101271. doi: 10.1016/j.ymgmr.2025.101271. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41158984 Free PMC article.

Severe nonketotic hyperglycinaemia due to a synonymous variant.

Pang P, Wan L, Liang Y, Zhao X, Yang G. Pang P, et al. Mol Genet Metab Rep. 2025 Oct 16;45:101268. doi: 10.1016/j.ymgmr.2025.101268. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41142854 Free PMC article.

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.

Sultan R, Urlacher J, Athey T, Kannu P, Seres P, Mercimek-Andrews S. Sultan R, et al. Mol Genet Metab Rep. 2025 Oct 10;45:101261. doi: 10.1016/j.ymgmr.2025.101261. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41142853 Free PMC article.

SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.

Kazem L, Al-Qabandi W, Albash B, Elshafie R, He M, Alsharhan H. Kazem L, et al. Mol Genet Metab Rep. 2025 Oct 15;45:101269. doi: 10.1016/j.ymgmr.2025.101269. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41142852 Free PMC article.

Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.

Seo JH, Sou W, Chinen Y, Okuyama T. Seo JH, et al. Mol Genet Metab Rep. 2025 Oct 10;45:101267. doi: 10.1016/j.ymgmr.2025.101267. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41142851 Free PMC article.

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.

Bottino M, Boyer M, Steenari MR, Barrick R, Abdenur JE. Bottino M, et al. Mol Genet Metab Rep. 2025 Oct 10;45:101260. doi: 10.1016/j.ymgmr.2025.101260. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41142850 Free PMC article.

Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumonia.

Akiba T, Shimada S, Matsuda S, Ishida S, Baba Y, Yamashita A, Shoji H, Okazaki Y, Murayama K. Akiba T, et al. Mol Genet Metab Rep. 2025 Oct 10;45:101266. doi: 10.1016/j.ymgmr.2025.101266. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41142849 Free PMC article.

Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome.

Noman K, Tridimas A, Lilleker JB, Nucifora G, Woolfson P, du Plessis D, Woodall A, Oldham A, Roberts ME, Bassett J, Roncaroli F, Jones SA, Coassin S, Kronenberg F, Stepien KM. Noman K, et al. Mol Genet Metab Rep. 2025 Oct 7;45:101265. doi: 10.1016/j.ymgmr.2025.101265. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41127218 Free PMC article.

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