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The Journal of Clinical Endocrinology and Metabolism
|
June 6, 2022
Six-Month Periodic Fasting in Patients With Type 2 Diabetes and Diabetic Nephropathy: A Proof-of-Concept Study
Alba Sulaj, Stefan Kopf, Ekaterina von Rauchhaupt, et al.
JIMD Reports
|
June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
Jürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
International Journal of Molecular Sciences
|
November 27, 2024
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using <sup>1</sup>H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids
Afshin Saffari, Moritz Niesert, Claire Cannet, et al.
Orphanet Journal of Rare Diseases
|
October 21, 2021
<sup>1</sup>H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Afshin Saffari, Claire Cannet, Astrid Blaschek, et al.
Gut Microbes
|
June 27, 2026
Early antibiotic exposure and vaccine immune responses in preterm infants: potential sex-specific differences
Laura Haag, Stefanie Dietz-Ziegler, Julian Schwarz, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendations
Stefan Kölker, Ernst Christensen, James V Leonard, et al.
Journal of Inherited Metabolic Disease
|
November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Nikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Journal of Inherited Metabolic Disease
|
June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland
Svenja Scharre, Annette L Hess, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
January 5, 2007
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
S Kölker, E Christensen, J V Leonard, et al.
Cellular and Molecular Life Sciences : CMLS
|
December 1, 2025
Local accumulation of very long-chain PUFA in plexiform layers associates with retinal dysfunction in a mouse model of peroxisomal ACBD5-deficiency
Julia Merz, Elisabeth Müller, Warda Darwisch, et al.
Page
of 16
Search research articles
Search
Showing results (131-140 of 157) with videos related to
Sort By:
Page
of 16
The Journal of Clinical Endocrinology and Metabolism
|
June 6, 2022
Six-Month Periodic Fasting in Patients With Type 2 Diabetes and Diabetic Nephropathy: A Proof-of-Concept Study
Alba Sulaj, Stefan Kopf, Ekaterina von Rauchhaupt, et al.
JIMD Reports
|
June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
Jürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
International Journal of Molecular Sciences
|
November 27, 2024
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using <sup>1</sup>H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids
Afshin Saffari, Moritz Niesert, Claire Cannet, et al.
Orphanet Journal of Rare Diseases
|
October 21, 2021
<sup>1</sup>H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Afshin Saffari, Claire Cannet, Astrid Blaschek, et al.
Gut Microbes
|
June 27, 2026
Early antibiotic exposure and vaccine immune responses in preterm infants: potential sex-specific differences
Laura Haag, Stefanie Dietz-Ziegler, Julian Schwarz, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendations
Stefan Kölker, Ernst Christensen, James V Leonard, et al.
Journal of Inherited Metabolic Disease
|
November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Nikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Journal of Inherited Metabolic Disease
|
June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland
Svenja Scharre, Annette L Hess, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
January 5, 2007
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
S Kölker, E Christensen, J V Leonard, et al.
Cellular and Molecular Life Sciences : CMLS
|
December 1, 2025
Local accumulation of very long-chain PUFA in plexiform layers associates with retinal dysfunction in a mouse model of peroxisomal ACBD5-deficiency
Julia Merz, Elisabeth Müller, Warda Darwisch, et al.
Page
of 16