Skadi Beblo

Leipzig, SN, Germany

Last Updated: 09/26/2026

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Found 57 publications

MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders.

MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders.

Journal: Investigative radiology

Published: November 18, 2025

Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute.

Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute.

Journal: Molecular genetics and metabolism reports

Published: August 06, 2025

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.

Journal: Orphanet journal of rare diseases

Published: June 13, 2025

Prevalence of avoidant/restrictive food intake disorder in children and adolescents with rare diseases.

Prevalence of avoidant/restrictive food intake disorder in children and adolescents with rare diseases.

Journal: Orphanet journal of rare diseases

Published: March 31, 2025

Executive Functions and Long-Term Metabolic Control in Adults with Phenylketonuria (PKU).

Executive Functions and Long-Term Metabolic Control in Adults with Phenylketonuria (PKU).

Journal: Metabolites

Published: January 23, 2025

Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.

Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.

Journal: Molecular genetics and metabolism

Published: January 15, 2025

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

Journal: Molecular genetics and metabolism

Published: January 05, 2025

Myeloid cell-specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.

Myeloid cell-specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.

Journal: Science translational medicine

Published: December 04, 2024

The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program.

The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program.

Journal: Nutrients

Published: November 12, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA).

Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA).

Journal: Molecular genetics and metabolism

Published: May 28, 2024

The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management.

The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management.

Journal: Orphanet journal of rare diseases

Published: March 27, 2024

Showing 1-12 of 57

Last Updated: 09/26/2026