Karbonhidrat Metabolizma Bozuklukları ve Görüntüleme Bulguları

Özet

Referanslar

Chandel NS. Carbohydrate Metabolism. Cold Spring Harb Perspect Biol 2021; 13: a040568.

Adeva-Andany MM, González-Lucán M, Donapetry-García C, Fernández-Fernández C, Ameneiros-Rodríguez E. Glycogen metabolism in humans. BBA Clin 2016; 5: 85–100.

Astrocytes as Key Regulators of Brain Energy Metabolism: New Therapeutic Perspectives - PubMed. https://pubmed.ncbi.nlm.nih.gov/35087428/ (accessed March 23, 2025).

De Angelis LC, Brigati G, Polleri G, et al. Neonatal Hypoglycemia and Brain Vulnerability. Front Endocrinol 2021; 12: 634305.

Neurological Characteristics of Pediatric Glycogen Storage Disease - PMC. https://pmc.ncbi.nlm.nih.gov/articles/PMC8176209/ (accessed March 23, 2025).

Roach PJ, Depaoli-Roach AA, Hurley TD, Tagliabracci VS. Glycogen and its metabolism: some new developments and old themes. Biochem J 2012; 441: 763–87.

Cenacchi G, Papa V, Costa R, et al. Update on polyglucosan storage diseases. Virchows Arch 2019; 475: 671–86.

Amano Y, Ishige M, Amano M, Shinoda N, Ando C, Takagi R. Pictorial Review of MRI Findings of Glycogen Storage Disease from Children to Young Adults. Children 2025; 12: 295.

Chen Z, Liu Y, Zheng G. Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis. Ann Hepatol 2018; 17: 903–5.

Jean-Marie Saudubray · Matthias R. Baumgartner. Inborn Metabolic Diseases, Seventh Edition. Springer Berlin Heidelberg, 2022 https://doi.org/10.1007/978-3-662-63123-2.

Tran C. Inborn Errors of Fructose Metabolism. What Can We Learn from Them? Nutrients 2017; 9: 356.

Úbeda F, Santander S, Luesma MJ. Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance. Diseases 2024; 12: 44.

Åsberg C, Hjalmarson O, Alm J, Martinsson T, Waldenström J, Hellerud C. Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis. J Inherit Metab Dis 2010; 33: 113–21.

Pinto A, Alfadhel M, Akroyd R, et al. International practices in the dietary management of fructose 1-6 biphosphatase deficiency. Orphanet J Rare Dis 2018; 13: 21.

Cortese A, Zhu Y, Rebelo AP, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet 2020; 52: 473–81.

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency - PMC. https://pmc.ncbi.nlm.nih.gov/articles/PMC5412439/ (accessed March 23, 2025).

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M. Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment. Biomolecules 2022; 12: 968.

Pasquali M, Yu C, Coffee B. Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2018; 20: 3–11.

Welling L, Bernstein LE, Berry GT, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis 2017; 40: 171–6.

Vitoria I, Melendreras F, Vázquez-Palazón A, et al. Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia. Nutrients 2023; 15: 594.

Özgün N, Celik M, Akdeniz O, Ozbek MN, Bulbul A, Anlar B. Early neurological complications in children with classical galactosemia and p.gln188arg mutation. Int J Dev Neurosci 2019; 78: 92–7.

White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging - Timmers - 2015 - Journal of Inherited Metabolic Disease - Wiley Online Library. https://onlinelibrary.wiley.com/doi/10.1007/s10545-014-9780-x (accessed March 23, 2025).

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29 Nisan 2025

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