Found: 15
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A challenging etiology of myopathy: The late-onset Pompe disease.
- Published in:
- European Journal of Rheumatology, 2023, v. 10, n. 1, p. 26, doi. 10.5152/eurjrheum.2022.21156
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- Article
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 6, p. 1201, doi. 10.1007/s11011-021-00714-7
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- Article
A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.
- Published in:
- Clinical Pediatrics, 2023, v. 62, n. 6, p. 537, doi. 10.1177/00099228221136120
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- Publication type:
- Article
Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 3, p. 277, doi. 10.1515/jpem-2020-0277
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- Publication type:
- Article
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 7, p. 675, doi. 10.1515/jpem-2018-0457
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- Publication type:
- Article
Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 11, p. 1289, doi. 10.1515/jpem-2018-0280
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- Publication type:
- Article
Role of surveillance screening in detecting tumor recurrence after treatment of childhood cancers.
- Published in:
- Turkish Archives of Pediatrics, 2021, v. 56, n. 2, p. 147, doi. 10.14744/TurkPediatriArs.2020.38243
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- Publication type:
- Article
Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2022, v. 12, n. 1, p. 27, doi. 10.4274/buchd.galenos.2021.56563
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- Article
Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index.
- Published in:
- 2020
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- Publication type:
- journal article
Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature.
- Published in:
- Annals of Nutrition & Metabolism, 2022, v. 78, n. 1, p. 48, doi. 10.1159/000519813
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- Publication type:
- Article
Inflammatory rheumatic diseases in patients with ochronotic arthropathy.
- Published in:
- Modern Rheumatology, 2021, v. 31, n. 5, p. 1031, doi. 10.1080/14397595.2020.1868121
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- Publication type:
- Article
Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis.
- Published in:
- Journal of Pediatric Research, 2017, v. 4, n. 2, p. 59, doi. 10.4274/jpr.15870
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- Publication type:
- Article
Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
- Published in:
- Turkish Journal of Medical Sciences, 2022, v. 52, n. 4, p. 1075, doi. 10.55730/1300-0144.5410
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- Publication type:
- Article
Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63552
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- Publication type:
- Article
Positive effects of ketogenic diet on weight control in children with obesity due to Prader–Willi syndrome.
- Published in:
- Clinical Endocrinology, 2023, v. 98, n. 3, p. 332, doi. 10.1111/cen.14864
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- Publication type:
- Article