Found: 50
Select item for more details and to access through your institution.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.
- Published in:
- 2010
- 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
Cirrhosis in an infant heterozygous for classical citrullinaemia.
- Published in:
- 2005
- By:
- Publication type:
- journal 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
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
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
Endomysium antibodies in the diagnosis of celiac disease in short-statured children with no gastrointestinal symptoms.
- Published in:
- Pediatrics International, 2001, v. 43, n. 1, p. 71, doi. 10.1046/j.1442-200X.2001.01327.x
- By:
- Publication type:
- Article
Pattern of human leukocyte antigens in Turkish children with celiac disease.
- Published in:
- Pediatrics International, 2000, v. 42, n. 6, p. 678, doi. 10.1046/j.1442-200x.2000.01311.x
- 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
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
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
- By:
- 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
- By:
- Publication type:
- Article
Diagnostic Dilemma: Osteopetrosis with superimposed rickets causing Neonatal Hypocalcemia.
- Published in:
- Journal of Tropical Pediatrics, 2015, v. 61, n. 2, p. 146, doi. 10.1093/tropej/fmv001
- By:
- Publication type:
- Article
Investigating for Inborn Errors of Metabolism with Tandem Mass Spectrometry in Ankara Region, Turkey: A 2 Years Evaluation.
- Published in:
- Journal of Tropical Pediatrics, 2004, v. 50, n. 3, p. 189, doi. 10.1093/tropej/50.3.189
- By:
- 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
- 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
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
Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 11/12, p. 1149, doi. 10.1515/jpem-2013-0066
- By:
- Publication type:
- Article
Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 5/6, p. 427, doi. 10.1515/jpem-2012-0306
- By:
- Publication type:
- Article
A rare case of severe lactic acidosis in a preterm infant: lack of thiamine during total parenteral nutrition.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 9/10, p. 843, doi. 10.1515/JPEM.2011.318
- By:
- Publication type:
- Article
Homocysteine, Fibrinogen and Anti-ox-LDL Antibody Levels as Markers of Atherosclerosis in Prepubertal Obese Children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 10, p. 915
- 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
Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features.
- Published in:
- Turkish Journal of Medical Sciences, 2020, v. 50, n. 4, p. 1048, doi. 10.3906/sag-1908-70
- 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
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
Evaluation of Bone Mineral Metabolism in Children Receiving Carbamazepine and Valproic Acid.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, n. 7, p. 933, doi. 10.1515/jpem.2000.13.7.933
- 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
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
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
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
- 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
NO<sub>2</sub>/NO<sub>3 </sub>Plasma Profile under Different Parenteral Nutrition Regimens in Newborns.
- Published in:
- Annals of Nutrition & Metabolism, 2007, v. 51, n. 1, p. 22, doi. 10.1159/000100817
- 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
A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Aromatic L-Amino acid decarboxylase deficiency : A new case from Turkey with a novel mutation.
- Published in:
- Annals of Indian Academy of Neurology, 2014, v. 17, n. 2, p. 234, doi. 10.4103/0972-2327.132652
- By:
- Publication type:
- 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
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
The co-existence of Fabry and celiac diseases: a case report.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 6, p. 679, doi. 10.1007/s00467-004-1462-8
- By:
- Publication type:
- Article
Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p. Gly116Val, in ANTXR2.
- Published in:
- Journal of Dermatology, 2013, v. 40, n. 8, p. 677, doi. 10.1111/1346-8138.12182
- By:
- 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
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
"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 47, doi. 10.4274/jpr.55477
- By:
- Publication type:
- Article
Bone Marrow Hemophagocytosis and Immunological Abnormalities in a Patient with Lysinuric Protein Intolerance.
- Published in:
- Acta Haematologica, 1997, v. 98, n. 3, p. 160, doi. 10.1159/000203612
- 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
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.
- Published in:
- Turkish Journal of Hematology, 2017, v. 34, n. 4, p. 376, doi. 10.4274/tjh.2017.0231
- By:
- 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
- By:
- Publication type:
- Article
Lysinuric protein intolerance: an overlooked diagnosis.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s43042-020-00084-2
- By:
- Publication type:
- Article