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The Lancet. Diabetes & Endocrinology
|
January 27, 2019
Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs
Fady Hannah-Shmouni, Constantine A Stratakis, Annalisa Sechi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 6, 2019
Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect
Elodie Hainque, Domitille Gras, Aurélie Meneret, et al.
European Journal of Human Genetics : EJHG
|
June 1, 2010
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease
Fanny Mochel, Sandrine Duteil, Cécilia Marelli, et al.
Journal of Inherited Metabolic Disease
|
July 3, 2025
Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases
Mirjam Langeveld, Sandra Sirrs, Daphne H Schoenmakers, et al.
Journal of Community Genetics
|
November 24, 2011
Genetic testing and counseling for hereditary neurological diseases in Mali
Katherine Gloria Meilleur, Souleymane Coulibaly, Moussa Traoré, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2006
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family
Christine Deffert, Florence Niel, Fanny Mochel, et al.
Journal of Inherited Metabolic Disease
|
November 26, 2019
A high prevalence of arterial hypertension in patients with mitochondrial diseases
Caroline Chong-Nguyen, Caroline Stalens, Yves Goursot, et al.
Journal of Hepatology
|
September 24, 2017
Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum
Nicolas Weiss, Fanny Mochel, Marika Rudler, et al.
European Heart Journal
|
July 31, 2015
Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases
Karim Wahbi, Wulfran Bougouin, Anthony Béhin, et al.
Annals of Neurology
|
October 24, 2017
A recessive ataxia diagnosis algorithm for the next generation sequencing era
Mathilde Renaud, Christine Tranchant, Juan Vicente Torres Martin, et al.
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of 18
Search research articles
Search
Showing results (71-80 of 172) with videos related to
Sort By:
Page
of 18
The Lancet. Diabetes & Endocrinology
|
January 27, 2019
Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs
Fady Hannah-Shmouni, Constantine A Stratakis, Annalisa Sechi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 6, 2019
Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect
Elodie Hainque, Domitille Gras, Aurélie Meneret, et al.
European Journal of Human Genetics : EJHG
|
June 1, 2010
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease
Fanny Mochel, Sandrine Duteil, Cécilia Marelli, et al.
Journal of Inherited Metabolic Disease
|
July 3, 2025
Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases
Mirjam Langeveld, Sandra Sirrs, Daphne H Schoenmakers, et al.
Journal of Community Genetics
|
November 24, 2011
Genetic testing and counseling for hereditary neurological diseases in Mali
Katherine Gloria Meilleur, Souleymane Coulibaly, Moussa Traoré, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2006
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family
Christine Deffert, Florence Niel, Fanny Mochel, et al.
Journal of Inherited Metabolic Disease
|
November 26, 2019
A high prevalence of arterial hypertension in patients with mitochondrial diseases
Caroline Chong-Nguyen, Caroline Stalens, Yves Goursot, et al.
Journal of Hepatology
|
September 24, 2017
Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum
Nicolas Weiss, Fanny Mochel, Marika Rudler, et al.
European Heart Journal
|
July 31, 2015
Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases
Karim Wahbi, Wulfran Bougouin, Anthony Béhin, et al.
Annals of Neurology
|
October 24, 2017
A recessive ataxia diagnosis algorithm for the next generation sequencing era
Mathilde Renaud, Christine Tranchant, Juan Vicente Torres Martin, et al.
Page
of 18