Daniela Karall

Innsbruck, Austria

Last Updated: 09/26/2026

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Found 129 publications

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Journal: Molecular metabolism

Published: May 13, 2026

GenKom-PKU: Improving Patient-Provider Communication in Phenylketonuria.

GenKom-PKU: Improving Patient-Provider Communication in Phenylketonuria.

Journal: Studies in health technology and informatics

Published: May 12, 2026

Austrian lipid consensus : Interdisciplinary evidence-based recommendations on prevention and treatment of lipid-associated diseases from 15 medical specialist societies

Austrian lipid consensus : Interdisciplinary evidence-based recommendations on prevention and treatment of lipid-associated diseases from 15 medical specialist societies

Journal: Wiener klinische Wochenschrift

Published: April 22, 2026

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Journal: Journal of inherited metabolic disease

Published: March 11, 2026

Progressive short stature in Pearson syndrome and the impact of organ failure.

Progressive short stature in Pearson syndrome and the impact of organ failure.

Journal: Molecular genetics and metabolism

Published: February 03, 2026

Heritability of Long-Term Complications in Classic Galactosemia.

Heritability of Long-Term Complications in Classic Galactosemia.

Journal: Journal of inherited metabolic disease

Published: December 19, 2025

Implications of the Tongue's Anatomy and Biomechanics for Breastfeeding.

Implications of the Tongue's Anatomy and Biomechanics for Breastfeeding.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: December 13, 2025

Transition and transfer from pediatrics to adult medicine

Transition and transfer from pediatrics to adult medicine

Journal: Wiener medizinische Wochenschrift (1946)

Published: November 14, 2025

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life.

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life.

Journal: Nutrients

Published: October 27, 2025

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Journal: Journal of inherited metabolic disease

Published: September 03, 2025

A suspicion index tool to aid the diagnosis and treatment of ASMD.

A suspicion index tool to aid the diagnosis and treatment of ASMD.

Journal: Orphanet journal of rare diseases

Published: July 22, 2025

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings.

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings.

Journal: Genes

Published: June 17, 2025

Showing 1-12 of 129

Last Updated: 09/26/2026