Found: 40
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Endothelial dysfunction in prediabetes and diabetes mellitus in patients with normal coronary arteries.
- Published in:
- BMC Cardiovascular Disorders, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12872-024-04314-y
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- Publication type:
- Article
Do cytokines play role in the pathogenesis of mucopolysaccharidosis.
- Published in:
- Medicine Science, 2021, v. 10, n. 4, p. 1492, doi. 10.5455/medscience.2021.09.312
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- Publication type:
- Article
Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 185, doi. 10.1159/000535853
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- Publication type:
- Article
A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 226, doi. 10.1159/000519604
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- Publication type:
- Article
Fosfomevalonat kinaz enzim eksikliğine bağlı hiperimmünoglobulin D sendromu mu?
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- Journal of Turkish Society for Rheumatology, 2022, v. 14, p. 29
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- Publication type:
- Article
Sudden Unilateral Vision Loss.
- Published in:
- Texas Heart Institute Journal, 2013, v. 40, n. 4, p. 453
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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
Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets.
- Published in:
- Journal of the College of Physicians & Surgeons Pakistan, 2019, v. 29, n. 12, p. 1207, doi. 10.29271/jcpsp.2019.12.1207
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- Publication type:
- Article
Autism: Screening of inborn errors of metabolism and unexpected results.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 5, p. 887, doi. 10.1002/aur.2486
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- Publication type:
- Article
Serum uric acid level is an independent risk factor for presence of calcium in coronary arteries: an observational case-controlled study.
- Published in:
- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2013, v. 13, n. 2, p. 139, doi. 10.5152/akd.2013.039
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- Publication type:
- Article
Is there any relationship between coronary artery disease and postprandial triglyceride levels?
- Published in:
- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2011, v. 11, n. 3, p. 201, doi. 10.5152/akd.2011.053
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- Publication type:
- Article
Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease.
- Published in:
- International Archives of Allergy & Immunology, 2023, v. 184, n. 4, p. 370, doi. 10.1159/000528343
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- Publication type:
- Article
Relationship Between the Flow-Mediated Dilatation of the Human Brachial Artery and Blood Biomarkers Related to the Endothelial Function in Cardiovascular Diseases.
- Published in:
- Erciyes Medical Journal / Erciyes Tip Dergisi, 2021, v. 43, n. 1, p. 75, doi. 10.14744/etd.2020.90592
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- Publication type:
- Article
New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 9, p. 820, doi. 10.1515/jpem-2024-0284
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- Publication type:
- Article
A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 6, p. 571, doi. 10.1515/jpem-2023-0569
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- Publication type:
- Article
Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 5, p. 413, doi. 10.1515/jpem-2023-0504
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- Publication type:
- Article
Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 7, p. 650, doi. 10.1515/jpem-2023-0105
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- Publication type:
- Article
Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, p. 1, doi. 10.1515/jpem-2023-0105
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- Publication type:
- Article
Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 4, p. 497, doi. 10.1515/jpem-2021-0732
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- Publication type:
- Article
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 4, p. 451, doi. 10.1515/jpem-2021-0278
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- Publication type:
- Article
First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 2, p. 273, doi. 10.1515/jpem-2021-0133
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- Publication type:
- Article
Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 6, p. 805, doi. 10.1515/jpem-2020-0655
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- Publication type:
- Article
Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 6, p. 813, doi. 10.1515/jpem-2020-0359
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- Publication type:
- Article
The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.
- Published in:
- JPEN Journal of Parenteral & Enteral Nutrition, 2021, v. 45, n. 8, p. 1788, doi. 10.1002/jpen.2121
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- Publication type:
- Article
Effects of metoprolol therapy on cardiac troponin-I levels after elective percutaneous coronary interventions.
- Published in:
- European Heart Journal, 2006, v. 27, n. 5, p. 547, doi. 10.1093/eurheartj/ehi709
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- Publication type:
- Article
Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?
- Published in:
- Journal of Current Pediatrics / Guncel Pediatri, 2023, v. 21, n. 3, p. 228, doi. 10.4274/jcp.2023.56255
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- Publication type:
- Article
Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.
- Published in:
- 2021
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- Publication type:
- journal article
Assessment of auditory functions in patients with hepatic glycogen storage diseases.
- Published in:
- Turkish Journal of Pediatrics, 2022, v. 64, n. 4, p. 658, doi. 10.24953/turkjped.2022.142
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- Publication type:
- Article
Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.
- Published in:
- Pediatric Drugs, 2024, v. 26, n. 3, p. 287, doi. 10.1007/s40272-024-00627-9
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- Publication type:
- Article
Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.
- Published in:
- Annals of Nutrition & Metabolism, 2020, v. 76, n. 4, p. 233, doi. 10.1159/000509335
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- Publication type:
- Article
An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochondrial DNA depletion syndrome with a novel mutation.
- Published in:
- Neurology Asia, 2022, v. 27, n. 1, p. 199, doi. 10.54029/2022zpv
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- Publication type:
- Article
A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
- Published in:
- 2019
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- Publication type:
- Letter
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
- Published in:
- Journal of Bone & Mineral Metabolism, 2021, v. 39, n. 4, p. 598, doi. 10.1007/s00774-020-01193-z
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- Publication type:
- Article
COVID-19 Infection in Patients with Gaucher Disease.
- Published in:
- Medical Records, 2023, v. 5, n. 2, p. 231, doi. 10.37990/medr.1139421
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- Publication type:
- Article
HFE-Related Hereditary Hemochromatosis Is Not Invariably a Disease of Adulthood: Importance of Early Diagnosis and Phlebotomy in Childhood.
- Published in:
- 2016
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- Publication type:
- journal article
Intestinal microbiota composition of children with glycogen storage Type I patients.
- Published in:
- European Journal of Clinical Nutrition, 2024, v. 78, n. 5, p. 407, doi. 10.1038/s41430-024-01412-0
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- Publication type:
- Article
Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Analbuminemia.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Potential triggering of repetitive nonreentrant ventriculoatrial synchrony by loss of atrial capture.
- Published in:
- Annals of Noninvasive Electrocardiology, 2023, v. 28, n. 1, p. 1, doi. 10.1111/anec.13033
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- Publication type:
- Article
PROPIONYLCARNITINE AND FREE CARNITINE ARE NEW BIOMARKERS IN THE FOLLOW-UP PERIOD OF MUCOPOLYSACCARIDOSIS TO SCREEN OXIDATIVE STRESS.
- Published in:
- Medical Journal of Suleyman Demirel University, 2021, v. 28, n. 4, p. 565, doi. 10.17343/sdutfd.928607
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- Publication type:
- Article
Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?
- Published in:
- Herz, 2024, v. 49, n. 1, p. 75, doi. 10.1007/s00059-023-05200-7
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- Publication type:
- Article