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Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
December 17, 2002
Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome
Marie-Cécile Nassogne, Mark Sharrard, Lucie Hertz-Pannier, et al.
Human Genetics
|
April 24, 2003
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
Sandrine Haut, Michèle Brivet, Guy Touati, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2010
Should transcobalamin deficiency be treated aggressively?
Manuel Schiff, Hélène Ogier de Baulny, Ghislaine Bard, et al.
The Journal of Pediatrics
|
November 11, 2006
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease
Vassili Valayannopoulos, Nanda M Verhoeven, Karine Mention, et al.
Journal of Child Neurology
|
August 25, 2009
Management of West syndrome in a patient with methylmalonic aciduria
Philippe M Campeau, Vassili Valayannopoulos, Guy Touati, et al.
Pediatric Research
|
April 4, 2009
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria
Yves de Keyzer, Vassili Valayannopoulos, Jean-François Benoist, et al.
American Journal of Medical Genetics
|
September 5, 2002
Facial appearance in persistent hyperinsulinemic hypoglycemia
Pascale de Lonlay, Valérie Cormier-Daire, Jeanne Amiel, et al.
Journal of Inherited Metabolic Disease
|
October 23, 2021
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up
Magali Gorce, Elise Lebigot, Alina Arion, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2013
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, et al.
Orphanet Journal of Rare Diseases
|
May 11, 2015
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Anais Brassier, Stephanie Gobin, Jean Baptiste Arnoux, et al.
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of 5
Search research articles
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Showing results (21-30 of 49) with videos related to
Sort By:
Page
of 5
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
December 17, 2002
Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome
Marie-Cécile Nassogne, Mark Sharrard, Lucie Hertz-Pannier, et al.
Human Genetics
|
April 24, 2003
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
Sandrine Haut, Michèle Brivet, Guy Touati, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2010
Should transcobalamin deficiency be treated aggressively?
Manuel Schiff, Hélène Ogier de Baulny, Ghislaine Bard, et al.
The Journal of Pediatrics
|
November 11, 2006
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease
Vassili Valayannopoulos, Nanda M Verhoeven, Karine Mention, et al.
Journal of Child Neurology
|
August 25, 2009
Management of West syndrome in a patient with methylmalonic aciduria
Philippe M Campeau, Vassili Valayannopoulos, Guy Touati, et al.
Pediatric Research
|
April 4, 2009
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria
Yves de Keyzer, Vassili Valayannopoulos, Jean-François Benoist, et al.
American Journal of Medical Genetics
|
September 5, 2002
Facial appearance in persistent hyperinsulinemic hypoglycemia
Pascale de Lonlay, Valérie Cormier-Daire, Jeanne Amiel, et al.
Journal of Inherited Metabolic Disease
|
October 23, 2021
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up
Magali Gorce, Elise Lebigot, Alina Arion, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2013
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, et al.
Orphanet Journal of Rare Diseases
|
May 11, 2015
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Anais Brassier, Stephanie Gobin, Jean Baptiste Arnoux, et al.
Page
of 5