Berna S. Yilmaz

Great Ormond Street Institute Of Child Health
London, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 publications

Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.

Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.

Journal: The Journal of international medical research

Published: December 24, 2024

Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia.

Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia.

Journal: Sisli Etfal Hastanesi tip bulteni

Published: December 22, 2024

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.

Journal: Children (Basel, Switzerland)

Published: July 01, 2023

Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects.

Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects.

Journal: JIMD reports

Published: March 06, 2023

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys.

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys.

Journal: Molecular therapy. Methods & clinical development

Published: May 26, 2021

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.

Journal: The Turkish journal of pediatrics

Published: April 30, 2021

Gene therapy for inherited metabolic diseases.

Gene therapy for inherited metabolic diseases.

Journal: Journal of mother and child

Published: February 08, 2021

Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.

Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 10, 2016

An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency.

An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 14, 2016

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: April 21, 2015

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 22, 2014

An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.

An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 11, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026