Found: 46
Select item for more details and to access through your institution.
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
- By:
- 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
- By:
- Publication type:
- Article
İnfantil Başlangıçlı Bir Tip 2 Glikojen Depo Hastalığı: Olgu Sunumu.
- Published in:
- Journal of Current Pediatrics / Guncel Pediatri, 2014, v. 12, n. 2, p. 131, doi. 10.4274/jcp.87487
- By:
- Publication type:
- Article
Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Analbuminemia.
- Published in:
- 2021
- By:
- Publication type:
- Letter
The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease.
- Published in:
- Journal of Pediatric Research, 2021, v. 8, n. 3, p. 257, doi. 10.4274/jpr.galenos.2020.13334
- By:
- Publication type:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Clinical course and outcome of glycogen-storage disease type 1a and type 1b.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Glikojen depo tip 1a ve tip 1b olgular.
- Published in:
- Türk Pediatri Arşivi, 2013, v. 48, n. 2, p. 117, doi. 10.4274/tpa.185
- By:
- Publication type:
- Article
Specialty-Training Program During COVID-19 Pandemic: A Single Center Survey on over 300 Trainees and Trainers.
- Published in:
- Gazi Medical Journal, 2022, v. 33, n. 4, p. 381, doi. 10.12996/gmj.2022.85
- By:
- Publication type:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 1, p. 45
- By:
- Publication type:
- Article
Simultaneous succinylacetone-nitisinone measurement in tyrosinemia type I patients and evaluation of the nitisinone therapeutic range.
- Published in:
- Biochimica Clinica, 2023, v. 47, n. 4, p. 340, doi. 10.19186/BC_2023.063
- By:
- 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
- By:
- Publication type:
- Article
N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Vitamin D intoxication and hypercalcaemia in an infant treated with pamidronate infusions.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 225, doi. 10.1007/s10545-010-9237-9
- By:
- Publication type:
- Article
CDH13 and LPHN3 Gene Polymorphisms in Attention-Deficit/Hyperactivity Disorder: Their Relation to Clinical Characteristics.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 2, p. 394, doi. 10.1007/s12031-020-01662-0
- By:
- Publication type:
- Article
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase ( IDUA) alleles.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2189, doi. 10.1002/humu.21479
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Nutritional Status of Syrian Refugees in Early Adolescence Living in Turkey.
- Published in:
- Journal of Immigrant & Minority Health, 2020, v. 22, n. 6, p. 1149, doi. 10.1007/s10903-020-00991-x
- By:
- Publication type:
- Article
Hypercalcemia in glycogen storage disease type I patients of Turkish origin.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 1, p. 35
- By:
- Publication type:
- Article
The levels of asymmetric dimethylarginine, homocysteine and carotid intima-media thickness in hypercholesterolemic children.
- Published in:
- Turkish Journal of Pediatrics, 2011, v. 53, n. 5, p. 522
- By:
- Publication type:
- Article
The role of viral agents in aetiopathogenesis of acute rheumatic fever.
- Published in:
- Clinical Rheumatology, 2011, v. 30, n. 1, p. 15, doi. 10.1007/s10067-010-1447-x
- By:
- Publication type:
- Article
Fosfomevalonat kinaz enzim eksikliğine bağlı hiperimmünoglobulin D sendromu mu?
- Published in:
- Journal of Turkish Society for Rheumatology, 2022, v. 14, p. 29
- By:
- Publication type:
- Article
Quality of life in children treated with restrictive diet for inherited metabolic disease.
- Published in:
- Pediatrics International, 2013, v. 55, n. 4, p. 428, doi. 10.1111/ped.12089
- By:
- Publication type:
- Article
3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 4, p. 478, doi. 10.1177/0883073808324536
- By:
- 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
- By:
- 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
- By:
- Publication type:
- journal article