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High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation

Journal of clinical pathology, 2005-09, Vol.58 (9), p.939-945

2005

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The effect of oral L-carnitine supplementation on the lipid profiles of hyperlipidaemic children

Acta pædiatrica (Oslo), 2005-06, Vol.94 (6), p.711-716

2005

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Maple syrup urine disease: Mutation analysis in Turkish patients

Journal of inherited metabolic disease, 2002-05, Vol.25 (2), p.89-97

2002

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Mutation analysis in Turkish patients with hereditary fructose intolerance

Journal of inherited metabolic disease, 2001-10, Vol.24 (5), p.523-526

2001

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Molecular basis of mild hyperphenylalaninaemia in Turkey

Journal of inherited metabolic disease, 2000-07, Vol.23 (5), p.523-525

2000

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Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.213-217

2008

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Factor V Leiden mutation in Turkish patients with homozygous cystathionine β‐synthase deficiency

Journal of inherited metabolic disease, 2001-06, Vol.24 (3), p.367-369

2001

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Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)

Human genetics, 2000-12, Vol.107 (6), p.546-553

2000

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Audiologic findings in children with biotinidase deficiency in Turkey

International journal of pediatric otorhinolaryngology, 2007-02, Vol.71 (2), p.333-339

2007

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Newborn PKU screening in Turkey: at present and organization for future

Turkish journal of pediatrics, 2001-04, Vol.43 (2), p.97

2001

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Secondary Hemophagocytosis in 3 Patients With Organic Acidemia Involving Propionate Metabolism

Pediatric hematology and oncology, 2012-02, Vol.29 (1), p.92-98

2012

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Neurological crisis mimicking acute pancreatitis in tyrosinemia type I

Turkish journal of pediatrics, 1999-10, Vol.41 (4), p.501

1999

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Phenylketonuria and cystic fibrosis in the same patient

Pediatrics international, 2000-02, Vol.42 (1), p.92-93

2000

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Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis

Prenatal diagnosis, 2001-10, Vol.21 (10), p.868-870

2001

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The effect of oral L-carnitine supplementation on the lipid profiles of hyperlipidaemic children

Acta Paediatrica, 2005-06, Vol.94 (6), p.711-716

2005

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The molecular basis of familial hypercholesterolaemia in Turkish patients

Atherosclerosis, 2005-05, Vol.180 (1), p.63-71

2005

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Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes

Pediatric and developmental pathology, 2005-11, Vol.8 (6), p.710-717

2005

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Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients

Turkish journal of pediatrics, 2001-04, Vol.43 (2), p.110

2001

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Permanent Transfemoral Pacemaker Implantation in a Child with Maroteaux Lamy Syndrome

Pacing and clinical electrophysiology, 2002-12, Vol.25 (12), p.1784-1785

2002

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A Boy With Spastic Paraparesis and Dyspnea

Journal of child neurology, 2004-05, Vol.19 (5), p.397-398

2004

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Factor V Leiden mutation in Turkish patients with homozygous cystathionine [beta]-synthase deficiency

Journal of inherited metabolic disease, 2001-06, Vol.24 (3), p.367

2001

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Management of phenylketonuria in Europe: Survey results from 19 countries

Molecular genetics and metabolism, 2010-02, Vol.99 (2), p.109-115

2010

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A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood

Turkish journal of pediatrics, 2016, Vol.58 (3), p.318-322

2016

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Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI

Diagnostic and Interventional Radiology, 2022-09, Vol.28 (5), p.516-521

2022

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Hearing Loss in Biotinidase Deficiency: Genotype-Phenotype Correlation

The Journal of pediatrics, 2007-04, Vol.150 (4), p.439-442

2007

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High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation

The effect of oral L-carnitine supplementation on the lipid profiles of hyperlipidaemic children

Maple syrup urine disease: Mutation analysis in Turkish patients

Mutation analysis in Turkish patients with hereditary fructose intolerance

Molecular basis of mild hyperphenylalaninaemia in Turkey

Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?

Factor V Leiden mutation in Turkish patients with homozygous cystathionine β‐synthase deficiency

Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)

Audiologic findings in children with biotinidase deficiency in Turkey

Newborn PKU screening in Turkey: at present and organization for future

Secondary Hemophagocytosis in 3 Patients With Organic Acidemia Involving Propionate Metabolism

Neurological crisis mimicking acute pancreatitis in tyrosinemia type I

Phenylketonuria and cystic fibrosis in the same patient

Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis

The effect of oral L-carnitine supplementation on the lipid profiles of hyperlipidaemic children

The molecular basis of familial hypercholesterolaemia in Turkish patients

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes

Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients

Permanent Transfemoral Pacemaker Implantation in a Child with Maroteaux Lamy Syndrome

A Boy With Spastic Paraparesis and Dyspnea

Factor V Leiden mutation in Turkish patients with homozygous cystathionine [beta]-synthase deficiency

Management of phenylketonuria in Europe: Survey results from 19 countries

A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood

Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI

Hearing Loss in Biotinidase Deficiency: Genotype-Phenotype Correlation

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