Publications by authors named "Sven Garbade"

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The Relationship Between Self-Compassion and Well-Being: A Meta-Analysis.
Ulli Zessin, Oliver Dickhäuser, Sven Garbade

November 2015

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Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.
Anna T Reischl-Hajiabadi, Sven F Garbade, Florian Gleich, Elena Schnabel-Besson, Roland Posset

J Inherit Metab Dis· November 2025

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Trial Readiness: Understanding the Natural History of Rare Diseases.
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F Garbade, Oya Kuseyri Hübschmann

J Inherit Metab Dis· November 2025

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Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.
Hannah Fels-Palesandro, Friederike Hörster, Dorothea Haas, Florian Gleich, Sven F Garbade

J Inherit Metab Dis· November 2025

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Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.
Nastassja Himmelreich, Sven F Garbade, Jürgen G Okun, Simone Hengst, Virginia Geiger

Neuropediatrics· October 2025

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Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany.
Dominic Lenz, Muhammad Abdulaziz, Bianca Peters, Matias Wagner, Lea D Schlieben, Sven F Garbade

J Pediatr Gastroenterol Nutr· September 2025

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Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, Cigdem Arikan, Sarah M Bedoyan, Sven F Garbade

Liver Int· July 2025

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Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency.
Laura Göde, Matthias Zielonka, Sven F Garbade, Roland Posset

PLoS One· May 2025

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Reliability and validity of the German "Evidence-Based Practice Confidence (EPIC) Scale" for allied health professionals.
Alexander Elser, Moritz Scherer, Maria Stadel, Sven F Garbade, Gudrun Diermayr

Z Evid Fortbild Qual Gesundhwes· April 2025

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Long-Term Outcomes of Adolescents and Young Adults Identified by Metabolic Newborn Screening.
Ulrike Mütze, Julia Stengel, Florian Gleich, Svenja Keßler, Sarah C Grünert, Sven Garbade

Pediatrics· April 2025

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Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.
Anke Schumann, Sven F Garbade, Skadi Beblo, Matthias Gautschi, Dorothea Haas

Mol Genet Metab· March 2025

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Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.
Elena Schnabel-Besson, Sven F Garbade, Florian Gleich, Sarah C Grünert, Johannes Krämer

J Inherit Metab Dis· January 2025

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Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis.
Svenja Scharre, Katharina Mengler, Elena Schnabel, Oya Kuseyri Hübschmann, Ali Tunç Tuncel, Sven F Garbade

Genet Med· January 2025

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Response to Downie et al.
Isabel R Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Sven F Garbade

J Inherit Metab Dis· January 2025

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Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Claudia Weiß, Lena-Luise Becker, Johannes Friese, Astrid Blaschek, Andreas Hahn, Sven F Garbade

Lancet Reg Health Eur· December 2024

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Elevated Soluble ACE2 Activity in Children and Adults After SARS-CoV-2 Exposure Irrespective of Laboratory-Confirmed Infection.
Maximilian Stich, Vladimir Gonçalves Magalhães, Friederike Bürger, Sven F Garbade, Kathrin Jeltsch

J Med Virol· December 2024

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Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.
Oliver Y Urban, Jan H Driedger, Sven F Garbade, Georg F Hoffmann, Stefan Kölker

Orphanet J Rare Dis· December 2024

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Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases.
Katharina Küper, Gernot Poschet, Julia Rossmann, Sven F Garbade, Alexander Spiegelhalter

Amino Acids· December 2024

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Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.
Elaine Zaunseder, Julian Teinert, Nikolas Boy, Sven F Garbade, Saskia Haupt

Int J Neonatal Screen· December 2024

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Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation.
Livia Interdonato, Nastassja Himmelreich, Sven F Garbade, Dan Wen, Marina Morath

Mol Genet Metab· October 2024

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Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.
Matthias Zielonka, Stefan Kölker, Sven F Garbade, Florian Gleich, Sandesh C S Nagamani

Mol Genet Metab· October 2024

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Comparative analysis of gene and disease selection in genomic newborn screening studies.
Isabel R Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Sven F Garbade

J Inherit Metab Dis· September 2024

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Age-appropriate or delayed myelination? Scoring myelination in routine clinical MRI.
Inga Harting, Sven F Garbade, Stefan D Roosendaal, Hannah Fels-Palesandro, Clara Raudonat

Eur J Paediatr Neurol· September 2024

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Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Katharina Mengler, Sven F Garbade, Florian Gleich, Eva Thimm, Petra May

Pediatrics· August 2024

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Vitamin B12 Deficiency Newborn Screening.
Ulrike Mütze, Florian Gleich, Dorothea Haas, Michael S Urschitz, Wulf Röschinger, Sven F Garbade

Pediatrics· August 2024

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Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.
Nastassja Himmelreich, Santiago Ramón-Maiques, Rosa Navarrete, Natalia Castejon-Fernandez, Sven F Garbade

Mol Genet Metab· July 2024

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