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Biochemical and molecular analysis of mucopolysaccharidoses in Turkey

Turkish journal of pediatrics, 2002-01, Vol.44 (1), p.13-17

2002

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Peculiar odor of traditional food and maple syrup urine disease

Pediatrics international, 1999-02, Vol.41 (1), p.108-109

1999

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Phenylketonuria and glycogen storage disease type III in sibs of one family

Turkish journal of pediatrics, 2002-01, Vol.44 (1), p.49-53

2002

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Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

Human mutation, 2002, Vol.19 (2), p.184-185

2002

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Delayed-onset profound biotinidase deficiency

The Journal of pediatrics, 1998-02, Vol.132 (2), p.362-365

1998

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Immune functions in children with classical phenylketonuria and tetrahydrobiopterin deficiencies

Indian pediatrics, 2003-09, Vol.40 (9), p.822-833

2003

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A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus : Clinical and evolutionary consideration

Pediatric research, 1997-02, Vol.41 (2), p.201-209

1997

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Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies

Indian pediatrics, 2003-09, Vol.40 (9), p.822-833

2003

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Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

Human mutation, 2002-02, Vol.19 (2), p.184-185

2002

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Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y

Human mutation, 1999, Vol.13 (4), p.339-339

1999

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Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia

The Journal of clinical investigation, 1990-06, Vol.85 (6), p.1821-1824

1990

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Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations

Human heredity, 2000-03, Vol.50 (2), p.102-111

2000

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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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High Levels of Lactate, Pyruvate, and Alanine in Anemic Children

Clinical pediatrics, 1988-04, Vol.27 (4), p.206-209

1988

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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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A case of Pearson syndrome associated with multiple renal cysts

Pediatric nephrology (Berlin, West), 1996-10, Vol.10 (5), p.637-638

1996

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Citrullinemia. Clinical experience with 23 cases

Turkish journal of pediatrics, 1998-04, Vol.40 (2), p.185

1998

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Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report

Turkish journal of pediatrics, 1997-04, Vol.39 (2), p.247

1997

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Isovaleric acidemia. Clinical presentation of 6 cases

Turkish journal of pediatrics, 1998-01, Vol.40 (1), p.111

1998

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Screening for congenital hypothyroidism in Turkey

European journal of pediatrics, 1995-08, Vol.154 (8), p.614-616

1995

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Infantile spasms as the initial symptom of biotinidase deficiency

The Journal of pediatrics, 1994, Vol.124 (1), p.103-104

1994

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HYPERLYSINEMIA WITHOUT CLINICAL FINDINGS

Acta Paediatrica, 1981-12, Vol.70 (6), p.951-953

1981

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The effect of live measles vaccines on serum vitamin A levels in healthy children

Acta paediatrica Japonica. Overseas edition, 1998-08, Vol.40 (4), p.345-349

1998

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Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia

Turkish journal of pediatrics, 1999-04, Vol.41 (2), p.231

1999

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Biochemical and molecular analysis of mucopolysaccharidoses in Turkey

Peculiar odor of traditional food and maple syrup urine disease

Phenylketonuria and glycogen storage disease type III in sibs of one family

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

Delayed-onset profound biotinidase deficiency

Immune functions in children with classical phenylketonuria and tetrahydrobiopterin deficiencies

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus : Clinical and evolutionary consideration

Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia

Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations

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

High Levels of Lactate, Pyruvate, and Alanine in Anemic Children

A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA

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

A case of Pearson syndrome associated with multiple renal cysts

Citrullinemia. Clinical experience with 23 cases

Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report

Isovaleric acidemia. Clinical presentation of 6 cases

Screening for congenital hypothyroidism in Turkey

Infantile spasms as the initial symptom of biotinidase deficiency

HYPERLYSINEMIA WITHOUT CLINICAL FINDINGS

The effect of live measles vaccines on serum vitamin A levels in healthy children

Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia

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