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Showing results (941-950 of 1,073) with videos related to
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Digital Health
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August 12, 2024
Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learned
Michele Zoch, Christian Gierschner, Anne-Katrin Andreeff, et al.
International Journal of Molecular Sciences
|
July 16, 2020
A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice
Tim Weigand, Florian Colbatzky, Tilman Pfeffer, et al.
Neurology
|
October 23, 2020
Phenylalanine Effects on Brain Function in Adult Phenylketonuria
Andrea Pilotto, Carl M Zipser, Edytha Leks, 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.
Nature Communications
|
July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
Molecular Genetics and Metabolism
|
November 25, 2015
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis
Thomas Opladen, Martin Lindner, Anibh M Das, 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.
Annals of Neurology
|
April 25, 2019
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Roland Posset, Andrea L Gropman, Sandesh C S Nagamani, et al.
Journal of Medicinal Chemistry
|
October 12, 2025
Use of P450 Enzymes for Late-Stage Functionalization in Drug Discovery
Vincent Poon, Christopher Bailey, Sandra Carvalho, et al.
Orphanet Journal of Rare Diseases
|
January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
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of 108
Search research articles
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Showing results (941-950 of 1,073) with videos related to
Sort By:
Page
of 108
Digital Health
|
August 12, 2024
Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learned
Michele Zoch, Christian Gierschner, Anne-Katrin Andreeff, et al.
International Journal of Molecular Sciences
|
July 16, 2020
A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice
Tim Weigand, Florian Colbatzky, Tilman Pfeffer, et al.
Neurology
|
October 23, 2020
Phenylalanine Effects on Brain Function in Adult Phenylketonuria
Andrea Pilotto, Carl M Zipser, Edytha Leks, 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.
Nature Communications
|
July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
Molecular Genetics and Metabolism
|
November 25, 2015
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis
Thomas Opladen, Martin Lindner, Anibh M Das, 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.
Annals of Neurology
|
April 25, 2019
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Roland Posset, Andrea L Gropman, Sandesh C S Nagamani, et al.
Journal of Medicinal Chemistry
|
October 12, 2025
Use of P450 Enzymes for Late-Stage Functionalization in Drug Discovery
Vincent Poon, Christopher Bailey, Sandra Carvalho, et al.
Orphanet Journal of Rare Diseases
|
January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Page
of 108