Found: 22
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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Late onset of isovaleric acidemia presenting with bicytopenia.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
"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
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
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
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
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
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
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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
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- Publication type:
- Article
Cirrhosis in an infant heterozygous for classical citrullinaemia.
- Published in:
- 2005
- By:
- Publication type:
- journal 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
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- 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
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
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