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Journal of Inherited Metabolic Disease
|
April 17, 2024
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
Bernd C Schwahn, Francjan van Spronsen, Albert Misko, et al.
JIMD Reports
|
March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Bernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
Molecular Genetics and Metabolism
|
November 2, 2024
cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant
Bernd C Schwahn, Claire Hart, Louisa Ann Smith, et al.
International Journal of Obesity (2005)
|
August 25, 2010
The growth hormone--IGF-I axis as a mediator for the association between FTO variants and body mass index: results of the Study of Health in Pomerania
D Rosskopf, C Schwahn, F Neumann, et al.
Translational Psychiatry
|
October 15, 2014
Genetic, psychosocial and clinical factors associated with hippocampal volume in the general population
D Janowitz, C Schwahn, U Borchardt, et al.
Molecular Genetics and Metabolism
|
November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiency
Lisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
JAMA Neurology
|
May 7, 2014
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia
Alexander Lossos, Omri Teltsh, Tsipi Milman, et al.
Archives of Disease in Childhood
|
March 11, 2025
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks
Shona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, et al.
Lancet (London, England)
|
September 8, 2015
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
Bernd C Schwahn, Francjan J Van Spronsen, Abdel A Belaidi, et al.
Archives of Disease in Childhood
|
May 5, 2017
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
Arunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 65) with videos related to
Sort By:
Page
of 7
Journal of Inherited Metabolic Disease
|
April 17, 2024
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
Bernd C Schwahn, Francjan van Spronsen, Albert Misko, et al.
JIMD Reports
|
March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Bernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
Molecular Genetics and Metabolism
|
November 2, 2024
cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant
Bernd C Schwahn, Claire Hart, Louisa Ann Smith, et al.
International Journal of Obesity (2005)
|
August 25, 2010
The growth hormone--IGF-I axis as a mediator for the association between FTO variants and body mass index: results of the Study of Health in Pomerania
D Rosskopf, C Schwahn, F Neumann, et al.
Translational Psychiatry
|
October 15, 2014
Genetic, psychosocial and clinical factors associated with hippocampal volume in the general population
D Janowitz, C Schwahn, U Borchardt, et al.
Molecular Genetics and Metabolism
|
November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiency
Lisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
JAMA Neurology
|
May 7, 2014
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia
Alexander Lossos, Omri Teltsh, Tsipi Milman, et al.
Archives of Disease in Childhood
|
March 11, 2025
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks
Shona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, et al.
Lancet (London, England)
|
September 8, 2015
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
Bernd C Schwahn, Francjan J Van Spronsen, Abdel A Belaidi, et al.
Archives of Disease in Childhood
|
May 5, 2017
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
Arunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, et al.
Page
of 7