Danijela P. Ramadza

Zagreb, Croatia

Last Updated: 09/26/2026

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Found 22 publications

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Journal: Molecular genetics and metabolism reports

Published: October 09, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.

Journal: Brain : a journal of neurology

Published: October 27, 2024

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

Journal: Journal of inherited metabolic disease

Published: July 17, 2023

GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

Journal: Clinical genetics

Published: June 26, 2023

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

Journal: Human genetics

Published: February 18, 2023

Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.

Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.

Journal: Journal of inherited metabolic disease

Published: April 27, 2022

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 31, 2021

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.

Journal: International journal of neonatal screening

Published: January 20, 2021

The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.

The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.

Journal: Klinische Padiatrie

Published: March 15, 2019

The natural history of classic galactosemia: lessons from the GalNet registry.

The natural history of classic galactosemia: lessons from the GalNet registry.

Journal: Orphanet journal of rare diseases

Published: January 15, 2019

Showing 1-12 of 22

Last Updated: 09/26/2026