Found: 31
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GENE THERAPY FOR INHERITED METABOLIC DISEASES.
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 2, p. 53, doi. 10.34763/jmotherandchild.20202402si.2004.000009
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- Publication type:
- Article
Üre Döngüsü Enzim Eksikliği Tanısı ile İzlenen 20 Hastanın Klinik ve Moleküler Özelliklerinin Değerlendirilmesi: Sekiz Yeni Mutasyon ile Çukurova Üniversitesi Deneyimi.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2020, v. 14, n. 2, p. 119, doi. 10.12956/tjpd.2018.397
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- Publication type:
- Article
Targeting the liver to treat the eye.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 4, p. 1, doi. 10.15252/emmm.202217285
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- Publication type:
- Article
Two Novel Missense Mutations in Nonketotic Hyperglycinemia.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 6, p. 789, doi. 10.1177/0883073814535499
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- Publication type:
- Article
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 5059, doi. 10.3390/ijms21145059
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- Publication type:
- Article
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
- Published in:
- 2022
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- Publication type:
- Case Study
Obez Çocuklarda D Vitamini Düzeyleri: İnsülin Düzeyi ve Dislipidemi ile İlişkisinin Değerlendirilmesi.
- Published in:
- Osmangazi Journal of Medicine / Osmangazi Tip Dergisi, 2020, v. 42, n. 6, p. 620, doi. 10.20515/otd.681619
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- Publication type:
- Article
Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2023, v. 23, n. 3, p. 31, doi. 10.26650/jchild.2023.1345981
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- Publication type:
- Article
A 17-year-old girl with chronic intermittent abdominal pain. Acute intermittent porphyria.
- Published in:
- 2015
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- Publication type:
- journal article
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1223, doi. 10.1007/s11011-018-0236-0
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- Publication type:
- Article
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 977, doi. 10.1007/s11011-017-0152-8
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- Publication type:
- Article
Niemann–Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 4, p. 535, doi. 10.1515/jpem-2021-0052
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- Publication type:
- Article
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
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- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 3, p. 339, doi. 10.1515/jpem-2017-0406
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- Publication type:
- Article
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 7, p. 713, doi. 10.1515/jpem-2016-0461
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- Publication type:
- Article
An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 2, p. 237, doi. 10.1515/jpem-2016-0324
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- Publication type:
- Article
Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 9/10, p. 1179, doi. 10.1515/jpem-2014-0528
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- Publication type:
- Article
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 5/6, p. 669, doi. 10.1515/jpem-2014-0302
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- Publication type:
- Article
Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects.
- Published in:
- 2023
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- Publication type:
- Case Study
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
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- Turkish Journal of Medical Sciences, 2021, v. 51, n. 3, p. 1220, doi. 10.3906/sag-2001-72
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- Publication type:
- Article
Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.
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- Turkish Journal of Pediatrics, 2021, v. 63, n. 2, p. 314, doi. 10.24953/turkjped.2021.02.016
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- Publication type:
- Article
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
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- Turkish Journal of Pediatrics, 2019, v. 61, n. 3, p. 330, doi. 10.24953/turkjped.2019.03.003
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- Publication type:
- Article
Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.
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- Turkish Journal of Pediatrics, 2017, v. 59, n. 4, p. 434, doi. 10.24953/turkjped.2017.04.010
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- Publication type:
- Article
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.
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- Turkish Journal of Pediatrics, 2017, v. 59, n. 3, p. 311, doi. 10.24953/turkjped.2017.03.012
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- Publication type:
- Article
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
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- Turkish Journal of Pediatrics, 2016, v. 58, n. 4, p. 362, doi. 10.24953/turkjped.2016.04.003
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- Publication type:
- Article
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
- Published in:
- Children, 2023, v. 10, n. 8, p. 1368, doi. 10.3390/children10081368
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- Publication type:
- Article
Novel therapies for mucopolysaccharidosis type III.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 129, doi. 10.1002/jimd.12316
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- Publication type:
- Article
Evaluation of bone health in patients with mucopolysaccharidosis.
- Published in:
- Journal of Bone & Mineral Metabolism, 2022, v. 40, n. 3, p. 498, doi. 10.1007/s00774-021-01304-4
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- Publication type:
- Article
Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.
- Published in:
- Biomedicines, 2023, v. 11, n. 8, p. 2227, doi. 10.3390/biomedicines11082227
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- Publication type:
- Article
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign.
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- Journal of Pediatric Research, 2021, v. 8, n. 2, p. 206, doi. 10.4274/jpr.galenos.2020.82621
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- Publication type:
- Article
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome.
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- Journal of Pediatric Research, 2018, v. 5, p. 54, doi. 10.4274/jpr.63825
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- Publication type:
- Article
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 7, doi. 10.4274/jpr.20982
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- Publication type:
- Article