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B Wortmann

Showing results (91-100 of 205) with videos related to

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Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|August 3, 2021
[Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases]J A Mayr, R G Feichtinger, M T Achleitner, et al.
Human Mutation|December 21, 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significanceSarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, et al.
Journal of Neurology|October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks surveyMichelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.
Human Molecular Genetics|October 5, 2013
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potentialPaul M Smith, Joanna L Elson, Laura C Greaves, et al.
Neuropediatrics|January 5, 2023
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral PhenylalanineSusanne L Oswald, Katja Steinbrücker, Melanie T Achleitner, et al.
JIMD Reports|June 5, 2013
Socio-emotional Problems in Children with CDGK F E van de Loo, L van Dongen, M Mohamed, et al.
JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
Metabolites|November 24, 2023
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal ScreeningMelanie T Achleitner, Judith J M Jans, Laura Ebner, et al.
International Journal of Neonatal Screening|July 2, 2021
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three FamiliesJohannes Spenger, Esther M Maier, Katharina Wechselberger, et al.
International Journal of Neonatal Screening|January 25, 2022
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. <i>Int. J. Neonatal Screen</i>. 2021, <i>7</i>, 32Johannes Spenger, Esther M Maier, Katharina Wechselberger, et al.
Pageof 21

Showing results (91-100 of 205) with videos related to

Sort By:
Pageof 21
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|August 3, 2021
[Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases]J A Mayr, R G Feichtinger, M T Achleitner, et al.
Human Mutation|December 21, 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significanceSarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, et al.
Journal of Neurology|October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks surveyMichelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.
Human Molecular Genetics|October 5, 2013
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potentialPaul M Smith, Joanna L Elson, Laura C Greaves, et al.
Neuropediatrics|January 5, 2023
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral PhenylalanineSusanne L Oswald, Katja Steinbrücker, Melanie T Achleitner, et al.
JIMD Reports|June 5, 2013
Socio-emotional Problems in Children with CDGK F E van de Loo, L van Dongen, M Mohamed, et al.
JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
Metabolites|November 24, 2023
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal ScreeningMelanie T Achleitner, Judith J M Jans, Laura Ebner, et al.
International Journal of Neonatal Screening|July 2, 2021
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three FamiliesJohannes Spenger, Esther M Maier, Katharina Wechselberger, et al.
International Journal of Neonatal Screening|January 25, 2022
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. <i>Int. J. Neonatal Screen</i>. 2021, <i>7</i>, 32Johannes Spenger, Esther M Maier, Katharina Wechselberger, et al.
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