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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17.Expand
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Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have beenExpand
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Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOXExpand
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Lipoxygenase-3 ( ALOXE 3 ) and 12 ( R )-lipoxygenase ( ALOX 12 B ) are mutated in non-bullous congenital ichthyosiform erythroderma ( NCIE ) linked to chromosome 17 p 13 . 1
We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17.Expand
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Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.
Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles and central nervousExpand
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Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS) gene
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS; EC 3.1.6.4). The deficiency ofExpand
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Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
Gaucher disease (GD) is the most frequent lysosomal glycolipid storage disorder due to autosomal recessive deficiency of acid beta-glucosidase and is characterized by the accumulation ofExpand
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Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B
Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somaticExpand
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Outcome of enzyme replacement therapy in Turkish patients with Gaucher disease: does late intervention affect the response?
We aimed to evaluate the outcome of enzyme replacement therapy (ERT) in Turkish Gaucher patients since it first became available in our country. Eleven patients with type I and one patient with typeExpand
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Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia
Glycogen storage disease type Ia (GSD Ia; von Gierke Disease; McKusick 232200) is an autosomal recessive inborn error of metabolism resulting from the de¢ciency of microsomal glucose-6-phosphataseExpand
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