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Orphanet Journal of Rare Diseases
|
July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 8, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
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Showing results (171-180 of 174) with videos related to
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Page
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You have reached the last page of results.
This site can display upto 174 results.
Orphanet Journal of Rare Diseases
|
July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 8, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
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of 18