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Showing results (81-90 of 100) with videos related to

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Molecular Genetics and Metabolism|December 3, 2011
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical GalactosaemiaK P Coss, J C Byrne, D J Coman, et al.
Journal of Medical Genetics|January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutationsH A L Tuppen, F Fattori, R Carrozzo, et al.
Journal of Medical Genetics|September 21, 2011
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseJ Uusimaa, H Jungbluth, C Fratter, et al.
American Journal of Medical Genetics. Part A|October 22, 2008
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuriaPhillip Lee, Eileen P Treacy, Eric Crombez, et al.
Human Reproduction Update|December 13, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemiaBritt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, et al.
Journal of Inherited Metabolic Disease|April 29, 2015
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARSJillian P Casey, Suzanne Slattery, Melanie Cotter, et al.
Orphanet Journal of Rare Diseases|September 21, 2018
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactionsHugh-Owen Colhoun, Estela M Rubio Gozalbo, Annet M Bosch, et al.
Orphanet Journal of Rare Diseases|July 23, 2013
Fertility preservation in female classic galactosemia patientsBritt van Erven, Cynthia S Gubbels, Ron J van Golde, et al.
Journal of Inherited Metabolic Disease|December 10, 2020
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of IrelandDaniel O'Reilly, Ellen Crushell, Joanne Hughes, et al.
Orphanet Journal of Rare Diseases|April 12, 2022
Designing rare disease care pathways in the Republic of Ireland: a co-operative modelA J Ward, D Murphy, R Marron, et al.
Pageof 10

Showing results (81-90 of 100) with videos related to

Sort By:
Pageof 10
Molecular Genetics and Metabolism|December 3, 2011
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical GalactosaemiaK P Coss, J C Byrne, D J Coman, et al.
Journal of Medical Genetics|January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutationsH A L Tuppen, F Fattori, R Carrozzo, et al.
Journal of Medical Genetics|September 21, 2011
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseJ Uusimaa, H Jungbluth, C Fratter, et al.
American Journal of Medical Genetics. Part A|October 22, 2008
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuriaPhillip Lee, Eileen P Treacy, Eric Crombez, et al.
Human Reproduction Update|December 13, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemiaBritt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, et al.
Journal of Inherited Metabolic Disease|April 29, 2015
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARSJillian P Casey, Suzanne Slattery, Melanie Cotter, et al.
Orphanet Journal of Rare Diseases|September 21, 2018
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactionsHugh-Owen Colhoun, Estela M Rubio Gozalbo, Annet M Bosch, et al.
Orphanet Journal of Rare Diseases|July 23, 2013
Fertility preservation in female classic galactosemia patientsBritt van Erven, Cynthia S Gubbels, Ron J van Golde, et al.
Journal of Inherited Metabolic Disease|December 10, 2020
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of IrelandDaniel O'Reilly, Ellen Crushell, Joanne Hughes, et al.
Orphanet Journal of Rare Diseases|April 12, 2022
Designing rare disease care pathways in the Republic of Ireland: a co-operative modelA J Ward, D Murphy, R Marron, et al.
Pageof 10