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Journal of Inherited Metabolic Disease
|
January 2, 2023
How guideline development has informed clinical research for organic acidurias (et vice versa)
Patrick Forny, Friederike Hörster, Matthias R Baumgartner, et al.
Brain & Development
|
September 18, 2007
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency
Eray Dirik, Uluç Yiş, Güven Paşaoğlu, et al.
Journal of Inherited Metabolic Disease
|
June 26, 2015
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study
Michel Hochuli, Emanuel Christ, Fabian Meienberg, et al.
Annals of Nutrition & Metabolism
|
August 30, 2017
Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria
Michel Hochuli, Sandra Bollhalder, Carina Thierer, et al.
Human Mutation
|
August 16, 2014
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency
Patrick Forny, D Sean Froese, Terttu Suormala, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
July 26, 2008
Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis
Andrea Badertscher, Urs Bauersfeld, Urs Arbenz, et al.
Journal of Inherited Metabolic Disease
|
October 1, 2015
Quo vadis: the re-definition of "inborn metabolic diseases"
Eva Morava, Shamima Rahman, Verena Peters, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2015
Peer review fraud-it's not big and it's not clever
Shamima Rahman, Matthias R Baumgartner, Eva Morava, et al.
Human Molecular Genetics
|
December 14, 2011
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism
Martin Stucki, David Coelho, Terttu Suormala, et al.
Orphanet Journal of Rare Diseases
|
January 30, 2022
Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus
Florin Bösch, Nina A Zeltner, Matthias R Baumgartner, et al.
Page
of 14
Search research articles
Search
Showing results (11-20 of 138) with videos related to
Sort By:
Page
of 14
Journal of Inherited Metabolic Disease
|
January 2, 2023
How guideline development has informed clinical research for organic acidurias (et vice versa)
Patrick Forny, Friederike Hörster, Matthias R Baumgartner, et al.
Brain & Development
|
September 18, 2007
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency
Eray Dirik, Uluç Yiş, Güven Paşaoğlu, et al.
Journal of Inherited Metabolic Disease
|
June 26, 2015
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study
Michel Hochuli, Emanuel Christ, Fabian Meienberg, et al.
Annals of Nutrition & Metabolism
|
August 30, 2017
Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria
Michel Hochuli, Sandra Bollhalder, Carina Thierer, et al.
Human Mutation
|
August 16, 2014
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency
Patrick Forny, D Sean Froese, Terttu Suormala, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
July 26, 2008
Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis
Andrea Badertscher, Urs Bauersfeld, Urs Arbenz, et al.
Journal of Inherited Metabolic Disease
|
October 1, 2015
Quo vadis: the re-definition of "inborn metabolic diseases"
Eva Morava, Shamima Rahman, Verena Peters, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2015
Peer review fraud-it's not big and it's not clever
Shamima Rahman, Matthias R Baumgartner, Eva Morava, et al.
Human Molecular Genetics
|
December 14, 2011
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism
Martin Stucki, David Coelho, Terttu Suormala, et al.
Orphanet Journal of Rare Diseases
|
January 30, 2022
Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus
Florin Bösch, Nina A Zeltner, Matthias R Baumgartner, et al.
Page
of 14