Berrak B. Gurbuz

Ankara, Turkey

Last Updated: 09/26/2026

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Found 20 publications

Diverse clinical spectrum of Niemann-Pick C: insights from a single center.

Diverse clinical spectrum of Niemann-Pick C: insights from a single center.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 26, 2026

Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis.

Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis.

Journal: Molecular syndromology

Published: July 09, 2025

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Journal: Journal of inherited metabolic disease

Published: February 14, 2025

D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.

D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.

Journal: Molecular syndromology

Published: December 08, 2024

A Patient with Organic Acidemia, Hyperammonemia, and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome.

A Patient with Organic Acidemia, Hyperammonemia, and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome.

Journal: Molecular syndromology

Published: May 17, 2024

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

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

Journal: American journal of medical genetics. Part A

Published: January 16, 2024

Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center.

Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center.

Journal: The Turkish journal of pediatrics

Published: November 05, 2021

Does glutaric aciduria type 1 affect hearing function?

Does glutaric aciduria type 1 affect hearing function?

Journal: Metabolic brain disease

Published: September 21, 2021

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

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

Journal: The Turkish journal of pediatrics

Published: August 27, 2021

A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency.

A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency.

Journal: The Turkish journal of pediatrics

Published: October 27, 2020

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.

Journal: The Turkish journal of pediatrics

Published: June 20, 2020

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

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

Journal: European journal of medical genetics

Published: April 12, 2020

Showing 1-12 of 20

Last Updated: 09/26/2026