Found: 18
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Heart Diseases in Patients with Organic Acidemia.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2024, v. 18, n. 3, p. 153, doi. 10.12956/tchd.1311485
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- Publication type:
- Article
This is My COVID-19 History During Pregnancy and Breastfeeding Period: Maternal and Neonatal Outcomes.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2023, v. 17, n. 5, p. 428, doi. 10.12956/tchd.1191612
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- Publication type:
- Article
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 2, p. 206, doi. 10.4274/jcrpe.galenos.2019.2019.0053
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- Publication type:
- Article
Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2739, doi. 10.1002/ajmg.a.62247
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- Publication type:
- Article
Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.
- Published in:
- Metabolic Brain Disease, 2014, v. 29, n. 1, p. 211, doi. 10.1007/s11011-014-9482-y
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- Publication type:
- Article
Home sleep study characteristics in patients with mucopolysaccharidosis.
- Published in:
- Sleep & Breathing, 2014, v. 18, n. 1, p. 143, doi. 10.1007/s11325-013-0862-z
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- Publication type:
- Article
Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers.
- Published in:
- 2021
- By:
- Publication type:
- Test/Instrument
Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions.
- Published in:
- 2021
- By:
- Publication type:
- Test/Instrument
Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 11, p. 1092, doi. 10.1515/jpem-2023-0336
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- Publication type:
- Article
Difficult to think about but easy to treat: scurvy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 7, p. 708, doi. 10.1515/jpem-2023-0129
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- Publication type:
- Article
SLC35A2-CDG: novel variants with two ends of the spectrum.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 9, p. 1185, doi. 10.1515/jpem-2021-0292
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- Publication type:
- Article
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 3, p. 665, doi. 10.1515/jpem-2019-0314
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- Publication type:
- Article
Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Mucopolysaccharidosis: Cross-Sectional Prospective Study.
- Published in:
- Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2024, v. 33, n. 1, p. 1, doi. 10.5336/pediatr.2023-98909
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- Publication type:
- Article
An Altered Mental Status and Hyperammonemia Attack in an Adolescent Girl: Carnitine Palmitoyltransferase Type 1a (CPT1a) Deficiency.
- Published in:
- Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2021, v. 30, n. 2, p. 165, doi. 10.5336/pediatr.2020-79899
- By:
- Publication type:
- Article
Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 289, doi. 10.24953/turkjped.2019.02.023
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- Publication type:
- Article
DGUOK-Related Mitochondrial DNA Depletion Syndrome in a Child With an Early Diagnosis of Glycogen Storage Disease.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Association Between Soluble CD40 Ligand and Hypercholesterolemia in Children and Adolescents.
- Published in:
- Journal of Pediatric Research, 2017, v. 4, n. 1, p. 1, doi. 10.4274/jpr.24654
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- Publication type:
- Article
Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease.
- Published in:
- Turkish Journal of Hematology, 2017, v. 34, n. 3, p. 264, doi. 10.4274/tjh.2015.0454
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- Publication type:
- Article