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Erişkin başlangıçlı kalıtsal metabolik hastalıklar: tek merkez deneyimi.
- Published in:
- Pamukkale Medical Journal, 2021, v. 14, n. 3, p. 692, doi. 10.31362/patd.920049
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- Publication type:
- Article
A surprising cause of proteinuria: Answers.
- Published in:
- 2022
- By:
- Publication type:
- Question & Answer
A surprising cause of proteinuria: Questions.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
İzole özofagus atrezisi-metil malonik asidemi birlikteliği: Literatürdeki ilk olgu.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2018, v. 8, n. 3, p. 239, doi. 10.5222/buchd.2018.76476
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- Publication type:
- Article
Management of acute metabolic crisis in TANGO2 deficiency: a case report.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 10, p. 983, doi. 10.1515/jpem-2023-0172
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- Publication type:
- Article
Deoxyguanosine kinase deficiency: a report of four patients.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 6, p. 697, doi. 10.1515/jpem-2016-0268
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- Publication type:
- 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
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
Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 4, p. 409, doi. 10.24953/turkjped.2012.1657
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- Publication type:
- Article
Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia.
- Published in:
- Turkish Archives of Pediatrics, 2022, v. 57, n. 4, p. 432, doi. 10.5152/TurkArchPediatr.2022.21362
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- Publication type:
- Article
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 8, p. 1077, doi. 10.1007/s00431-015-2509-5
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- Publication type:
- Article