Found: 8
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A Novel Double Homozygous BTD Gene Mutation in a Case of Profound Biotinidase Deficiency.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2023, v. 17, n. 3, p. 250, doi. 10.12956/tchd.1082479
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- Article
Perplexing Etiology of Hyperphenylalaninemia in an Infant Referred via Newborn Screening.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 10, p. 1428, doi. 10.1093/clinchem/hvab106
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- Article
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 6, p. 1405, doi. 10.1007/s11011-021-00753-0
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- Article
Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 381, doi. 10.1002/jimd.12016
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- Article
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 4, p. 388
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- Publication type:
- Article
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
- Published in:
- Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256
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- Publication type:
- Article
Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 3, p. 213
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- Publication type:
- Article