Found: 44
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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Cirrhosis in an infant heterozygous for classical citrullinaemia.
- Published in:
- 2005
- By:
- Publication type:
- journal 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
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
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- Publication type:
- Article
Frequency of vitamin D insufficiency in healthy children between 1 and 16 years of age in Turkey.
- Published in:
- Pediatrics International, 2011, v. 53, n. 6, p. 968, doi. 10.1111/j.1442-200X.2011.03486.x
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- Publication type:
- Article
Adjuvant effect of vitamin A on recurrent lower urinary tract infections.
- Published in:
- Pediatrics International, 2007, v. 49, n. 3, p. 310, doi. 10.1111/j.1442-200X.2007.02370.x
- 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
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- 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
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- Publication type:
- Article
Role of excitatory aminoacids in neonatal hypoglycemia.
- Published in:
- Pediatrics International, 1998, v. 40, n. 4, p. 303, doi. 10.1111/j.1442-200X.1998.tb01936.x
- 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
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- 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
Is there a relationship between serum essential amino acids and insulin-like growth factor-1 levels in children with chronic renal disease?
- Published in:
- 1998
- By:
- Publication type:
- Letter
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
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
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
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- Publication type:
- Article
Bone Mineral Density in Childhood Obesity.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, n. 3, p. 307, doi. 10.1515/jpem.2000.13.3.307
- By:
- Publication type:
- Article
Bone Mineral Density and Metabolism in Children Treated with LThyroxine.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 4, p. 519
- By:
- Publication type:
- Article
Plasma and Erythrocyte Vitamin E Levels in Children with Insulin Dependent Diabetes Mellitus.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 2, p. 193
- By:
- Publication type:
- Article
Serum Levels of Insulin-like Growth Factor-I and Insulin-like Growth Factor Binding Protein-3 in Obese Children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1997, v. 10, n. 3, p. 295, doi. 10.1515/jpem.1997.10.3.295
- 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
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
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
Rhabdomyolysis and acute kidney injury in two children: Questions.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 6, p. 899, doi. 10.1007/s00467-012-2261-2
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- Publication type:
- Article
Rhabdomyolysis and acute kidney injury in two children: Answers.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 6, p. 901, doi. 10.1007/s00467-012-2264-z
- By:
- Publication type:
- Article
Distal Radius Kantitatif Ultrason Ãlçümleri ve Etkileyen Faktörler.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Distal Radius Kantitatif Ultrason lmleri ve Etkileyen Faktrler.
- Published in:
- Turkish Journal of Osteoporosis / Turk Osteoporoz Dergisi, 2011, v. 17, n. 1, p. 1
- By:
- Publication type:
- Article
Late onset of isovaleric acidemia presenting with bicytopenia.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
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
Zinc deficiency in the pediatric age group is common but underevaluated.
- Published in:
- World Journal of Pediatrics, 2017, v. 13, n. 4, p. 360, doi. 10.1007/s12519-017-0007-8
- 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
An overview of L-2-hydroxyglutarate dehydrogenase gene ( L2HGDH) variants: a genotype-phenotype study.
- Published in:
- 2010
- By:
- Publication type:
- Other
"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
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
Ketone Utilization Disorder and Hypodontia.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
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
Cholesterol screening in school children: is family history reliable to choose the ones to screen?
- Published in:
- Acta Paediatrica, 2007, v. 96, n. 12, p. 1794, doi. 10.1111/j.1651-2227.2007.00554.x
- By:
- Publication type:
- Article
Serum leptin, oxidized low density lipoprotein and plasma asymmetric dimethylarginine levels and their relationship with dyslipidaemia in adolescent girls with polycystic ovary syndrome.
- Published in:
- Clinical Endocrinology, 2007, v. 67, n. 1, p. 129, doi. 10.1111/j.1365-2265.2007.02849.x
- By:
- Publication type:
- Article