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P de Lonlay

Showing results (121-130 of 131) with videos related to

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Journal of Inherited Metabolic Disease|February 24, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentationP DE Lonlay, M C Nassogne, A H van Gennip, et al.
Neurology|July 7, 2010
Mitochondrial ND5 mutations mimicking brainstem tectal gliomaM Rio, A S Lebre, P de Lonlay, et al.
Journal of Inherited Metabolic Disease|March 13, 2026
Long-Term Follow-Up of Patients With Transaldolase DeficiencyM Scaglione, A Brassier, A Wiedemann, et al.
Journal of Medical Genetics|July 22, 2005
Congenital hyperinsulinism and mosaic abnormalities of the ploidyI Giurgea, D Sanlaville, J-C Fournet, et al.
Molecular Genetics and Metabolism|June 12, 2013
Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic diseaseA Brassier, O Boyer, V Valayannopoulos, et al.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Journal of Medical Genetics|January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesP de Lonlay, N Seta, S Barrot, et al.
Journal of Medical Genetics|October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiencyA S Lebre, M Rio, L Faivre d'Arcier, et al.
Glycoconjugate Journal|September 26, 2000
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGSM Aebi, A Helenius, B Schenk, et al.
Molecular Genetics and Metabolism|August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementCamille Wicker, Charles-Joris Roux, Louise Goujon, et al.
Pageof 14

Showing results (121-130 of 131) with videos related to

Sort By:
Pageof 14
Journal of Inherited Metabolic Disease|February 24, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentationP DE Lonlay, M C Nassogne, A H van Gennip, et al.
Neurology|July 7, 2010
Mitochondrial ND5 mutations mimicking brainstem tectal gliomaM Rio, A S Lebre, P de Lonlay, et al.
Journal of Inherited Metabolic Disease|March 13, 2026
Long-Term Follow-Up of Patients With Transaldolase DeficiencyM Scaglione, A Brassier, A Wiedemann, et al.
Journal of Medical Genetics|July 22, 2005
Congenital hyperinsulinism and mosaic abnormalities of the ploidyI Giurgea, D Sanlaville, J-C Fournet, et al.
Molecular Genetics and Metabolism|June 12, 2013
Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic diseaseA Brassier, O Boyer, V Valayannopoulos, et al.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Journal of Medical Genetics|January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesP de Lonlay, N Seta, S Barrot, et al.
Journal of Medical Genetics|October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiencyA S Lebre, M Rio, L Faivre d'Arcier, et al.
Glycoconjugate Journal|September 26, 2000
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGSM Aebi, A Helenius, B Schenk, et al.
Molecular Genetics and Metabolism|August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementCamille Wicker, Charles-Joris Roux, Louise Goujon, et al.
Pageof 14