Hatice S. Sivri

Ankara, Turkey

Last Updated: 09/26/2026

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Found 48 publications

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Journal: Journal of inherited metabolic disease

Published: December 04, 2023

Erratum to `Recommendations on phenylketonuria in Turkey` [Turk J Pediatr 2022; 64: 413-434].

Erratum to `Recommendations on phenylketonuria in Turkey` [Turk J Pediatr 2022; 64: 413-434].

Journal: The Turkish journal of pediatrics

Published: December 30, 2022

Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective.

Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective.

Journal: Frontiers in public health

Published: November 08, 2022

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Journal: Balkan medical journal

Published: August 15, 2022

Recommendations on phenylketonuria in Turkey.

Recommendations on phenylketonuria in Turkey.

Journal: The Turkish journal of pediatrics

Published: July 28, 2022

Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.

Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.

Journal: NEJM evidence

Published: July 01, 2022

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.

Journal: Molecular genetics and metabolism

Published: April 25, 2022

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

Journal: Journal of clinical research in pediatric endocrinology

Published: March 21, 2022

Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses.

Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses.

Journal: Turkish archives of pediatrics

Published: February 03, 2022

Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.

Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 31, 2021

COVID-19-related anxiety in phenylketonuria patients.

COVID-19-related anxiety in phenylketonuria patients.

Journal: The Turkish journal of pediatrics

Published: November 05, 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

Showing 1-12 of 48

Last Updated: 09/26/2026