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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3.
Genet Med. 2022.
PMID: 35503103
Free article.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium.
Yverneau M, et al.
J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9.
J Inherit Metab Dis. 2022.
PMID: 35460084
Free article.
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Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium.
Kožich V, et al.
J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28.
J Inherit Metab Dis. 2021.
PMID: 33295057
Free PMC article.
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[Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes].
Fraile PQ, Hernández EM, Martínez de Aragón A, Macias-Vidal J, Coll MJ, Espert AN, Silva MT.
Fraile PQ, et al.
An Pediatr (Barc). 2010 Nov;73(5):257-63. doi: 10.1016/j.anpedi.2010.07.008.
An Pediatr (Barc). 2010.
PMID: 20826119
Free article.
Spanish.
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