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Novel mutations cause biotinidase deficiency in Turkish children

Journal of inherited metabolic disease, 2000-03, Vol.23 (2), p.120-128

2000

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Mutation analysis in Turkish phenylketonuria patients

Journal of medical genetics, 1993-02, Vol.30 (2), p.129-130

1993

Volltextzugriff (PDF)

Mutation analysis in Turkish patients with hereditary fructose intolerance

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

2001

Volltextzugriff (PDF)

Screening for congenital hypothyroidism in Turkey

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

1995

Volltextzugriff (PDF)

Inherited metabolic disorders in Turkey

Journal of inherited metabolic disease, 1990-01, Vol.13 (5), p.732-738

1990

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Long-term efficacy and safety of once-daily enoxaparin plus warfarin for the outpatient ambulatory treatment of lower-limb deep vein thrombosis in the TROMBOTEK trial

Journal of vascular surgery, 2010-11, Vol.52 (5), p.1262-1270

2010

Volltextzugriff (PDF)

Infantile spasms as the initial symptom of biotinidase deficiency

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

1994

Volltextzugriff (PDF)

Prevalence of cervical cytological abnormalities in Turkey

International journal of gynecology and obstetrics, 2009-09, Vol.106 (3), p.206-209

Turkish Cervical Cancer and Cervical Cytology Research Group

2009

Volltextzugriff (PDF)

Maple syrup urine disease: Mutation analysis in Turkish patients

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

2002

Volltextzugriff (PDF)

Valproate‐induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency

Journal of inherited metabolic disease, 1991-09, Vol.14 (5), p.836-837

1991

Volltextzugriff (PDF)

Plasma and Leukocyte Zinc and Copper Levels in Patients with Protein Energy Malnutrition

Journal of tropical pediatrics (1980), 1988-12, Vol.34 (6), p.306-308

1988

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Molecular basis of mild hyperphenylalaninaemia in Turkey

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

2000

Volltextzugriff (PDF)

Delayed-onset profound biotinidase deficiency

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

1998

Volltextzugriff (PDF)

The Effect of Zinc-Supplemented Bread Consumption on School Children with Asymptomatic Zinc Deficiency

Journal of pediatric gastroenterology and nutrition, 1998-02, Vol.26 (2), p.167-171

1998

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Type I hereditary tyrosinaemia: Presentation of 11 cases

Journal of inherited metabolic disease, 1991-09, Vol.14 (5), p.765-770

1991

Volltextzugriff (PDF)

Cerebrospinal fluid glutamine level in the differential diagnosis of a “bloody Tap” in newborn infants

Brain & development (Tokyo. 1979), 1992-11, Vol.14 (6), p.428-429

1992

Volltextzugriff (PDF)

A case of Pearson syndrome associated with multiple renal cysts

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

1996

Volltextzugriff (PDF)

Study of 12 mutations in Turkish cystic fibrosis patients

Human heredity, 1995, Vol.45 (3), p.175

1995

Volltextzugriff (PDF)

Investigation of serum vitamin A levels of children who had a history of recurrent diarrhoea and acute respiratory infections in Ankara

Journal of tropical pediatrics (1980), 1990-10, Vol.36 (5), p.251-255

1990

Volltextzugriff (PDF)

The major presenting symptom in a biotinidase‐deficient patient: Laryngeal stridor

Journal of inherited metabolic disease, 1992-03, Vol.15 (2), p.281-282

1992

Volltextzugriff (PDF)

Fifteen years' experience with 212 hyperammonaemic cases at a Metabolic Unit

Journal of inherited metabolic disease, 1991-09, Vol.14 (5), p.698-706

1991

Volltextzugriff (PDF)

3‐Hydroxy‐3‐methylglutaryl coenzyme A lyase deficiency

Journal of inherited metabolic disease, 1993-11, Vol.16 (6), p.1062-1063

1993

Volltextzugriff (PDF)

Biotinidase deficiency with neurological features resembling multiple sclerosis

Journal of inherited metabolic disease, 1997-09, Vol.20 (5), p.707-708

1997

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Novel mutations cause biotinidase deficiency in Turkish children

Mutation analysis in Turkish phenylketonuria patients

Mutation analysis in Turkish patients with hereditary fructose intolerance

Screening for congenital hypothyroidism in Turkey

Inherited metabolic disorders in Turkey

Long-term efficacy and safety of once-daily enoxaparin plus warfarin for the outpatient ambulatory treatment of lower-limb deep vein thrombosis in the TROMBOTEK trial

Infantile spasms as the initial symptom of biotinidase deficiency

Prevalence of cervical cytological abnormalities in Turkey

Maple syrup urine disease: Mutation analysis in Turkish patients

Valproate‐induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency

Plasma and Leukocyte Zinc and Copper Levels in Patients with Protein Energy Malnutrition

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

Molecular basis of mild hyperphenylalaninaemia in Turkey

Delayed-onset profound biotinidase deficiency

The Effect of Zinc-Supplemented Bread Consumption on School Children with Asymptomatic Zinc Deficiency

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

Type I hereditary tyrosinaemia: Presentation of 11 cases

Cerebrospinal fluid glutamine level in the differential diagnosis of a “bloody Tap” in newborn infants

A case of Pearson syndrome associated with multiple renal cysts

Study of 12 mutations in Turkish cystic fibrosis patients

Investigation of serum vitamin A levels of children who had a history of recurrent diarrhoea and acute respiratory infections in Ankara

The major presenting symptom in a biotinidase‐deficient patient: Laryngeal stridor

Fifteen years' experience with 212 hyperammonaemic cases at a Metabolic Unit

3‐Hydroxy‐3‐methylglutaryl coenzyme A lyase deficiency

Biotinidase deficiency with neurological features resembling multiple sclerosis

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