Found: 9
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Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
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- Nutrients, 2024, v. 16, n. 6, p. 812, doi. 10.3390/nu16060812
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- Article
Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.674722
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- Article
In search of a common denominator in the course of congenital hyperammonemias.
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- Folia Neuropathologica, 2022, v. 60, n. 3, p. 372
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- Article
Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1019283
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- Article
Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 199, doi. 10.1002/jmd2.12278
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- Article
Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 3, p. 207, doi. 10.5114/pedm.2022.116115
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- Article
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 2, p. 141, doi. 10.5114/pedm.2022.116116
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- Article
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
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- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2169, doi. 10.1007/s11011-021-00827-z
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- Article
S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool?
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- Journal of Clinical Medicine, 2023, v. 12, n. 6, p. 2411, doi. 10.3390/jcm12062411
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- Article