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Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2020-01, Vol.183 (1), p.3-4

2020

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Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.381-388

2019

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Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.2954-2967

2017

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Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span

Brain & development (Tokyo. 1979), 2018-06, Vol.40 (6), p.458-464

2018

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Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Journal of human genetics, 2013-10, Vol.58 (10), p.675-678

2013

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Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency

Metabolic brain disease, 2019-10, Vol.34 (5), p.1487-1491

2019

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Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Metabolic brain disease, 2021-08, Vol.36 (6), p.1411-1411

2021

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Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’

Metabolic brain disease, 2018-12, Vol.33 (6), p.1779-1780

2018

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Five novel ALMS1 gene mutations in six patients with Alström syndrome

Journal of pediatric endocrinology & metabolism : JPEM, 2018-06, Vol.31 (6), p.681

2018

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Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

European journal of pediatrics, 2015-08, Vol.174 (8), p.1077-1084

2015

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A patient with mitochondrial disorder due to a novel mutation in MRPS22

Metabolic brain disease, 2017-10, Vol.32 (5), p.1389-1393

2017

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Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

Journal of clinical immunology, 2014-04, Vol.34 (3), p.265-266

2014

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DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Metabolic brain disease, 2021-08, Vol.36 (6), p.1405-1410

2021

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From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood

Archives of Epilepsy, 2024-06, Vol.30 (2), p.53-55

2024

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Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist

Journal of nephrology, 2024-07

2024

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Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Turkish journal of pediatrics, 2021-07, Vol.63 (4), p.691-696

2021

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Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes

DNA and cell biology, 2014-12, Vol.33 (12), p.876

2014

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Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Turkish journal of pediatrics, 2021-08, Vol.63 (4), p.691-696

2021

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Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

American journal of medical genetics. Part A, 2024-05, p.e63645

2024

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Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients

European journal of medical genetics, 2020-11, Vol.63 (11), p.104032-104032, Article 104032

2020

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Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Neurology. Genetics, 2016-06, Vol.2 (3), p.e78-e78

2016

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Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

The Turkish journal of pediatrics, 2021, Vol.63 (4), p.691

2021

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Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I

Turkish journal of medical sciences, 2016-02, Vol.46 (2), p.404-408

2016

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STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

Clinical immunology (Orlando, Fla.), 2015-12, Vol.161 (2), p.316-323

2015

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Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

American journal of medical genetics. Part A, 2024, p.e63645-e63645

2024

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Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency

Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’

Five novel ALMS1 gene mutations in six patients with Alström syndrome

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

A patient with mitochondrial disorder due to a novel mutation in MRPS22

Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood

Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist

Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

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