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Orphanet Journal of Rare Diseases
|
April 19, 2015
Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome
Abhijit Ricky Pal, Eveline J Langereis, Muhammad A Saif, et al.
International Journal of Neonatal Screening
|
March 26, 2025
Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening
Maria Jose de Castro Lopez, Fiona J White, Victoria Holmes, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2014
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
Christian J Hendriksz, Barbara Burton, Thomas R Fleming, et al.
European Journal of Immunology
|
July 17, 2013
Interleukin-6 limits influenza-induced inflammation and protects against fatal lung pathology
Sarah N Lauder, Emma Jones, Kathryn Smart, et al.
Human Molecular Genetics
|
August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.
Hepatology Communications
|
January 8, 2025
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals
Pramod K Mistry, David Cassiman, Simon A Jones, et al.
Journal of Lipid Research
|
June 16, 2025
Circulating membrane aminophospholipids contribute to thrombotic risk in rheumatoid arthritis
Daniela O Costa, Majd B Protty, Victoria J Tyrrell, et al.
Journal of Lipid Research
|
April 8, 2018
Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation
William J Griffiths, Ian Gilmore, Eylan Yutuc, et al.
Rheumatology (Oxford, England)
|
December 14, 2020
The role of interleukin-6 trans-signalling on cardiovascular dysfunction in inflammatory arthritis
Ruth Davies, Jessica Williams, Katie Sime, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
March 4, 2011
In vivo functional analysis and genetic modification of in vitro-derived mouse neutrophils
Jacqueline U McDonald, Andrea Cortini, Marcela Rosas, et al.
Page
of 26
Search research articles
Search
Showing results (161-170 of 259) with videos related to
Sort By:
Page
of 26
Orphanet Journal of Rare Diseases
|
April 19, 2015
Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome
Abhijit Ricky Pal, Eveline J Langereis, Muhammad A Saif, et al.
International Journal of Neonatal Screening
|
March 26, 2025
Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening
Maria Jose de Castro Lopez, Fiona J White, Victoria Holmes, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2014
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
Christian J Hendriksz, Barbara Burton, Thomas R Fleming, et al.
European Journal of Immunology
|
July 17, 2013
Interleukin-6 limits influenza-induced inflammation and protects against fatal lung pathology
Sarah N Lauder, Emma Jones, Kathryn Smart, et al.
Human Molecular Genetics
|
August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.
Hepatology Communications
|
January 8, 2025
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals
Pramod K Mistry, David Cassiman, Simon A Jones, et al.
Journal of Lipid Research
|
June 16, 2025
Circulating membrane aminophospholipids contribute to thrombotic risk in rheumatoid arthritis
Daniela O Costa, Majd B Protty, Victoria J Tyrrell, et al.
Journal of Lipid Research
|
April 8, 2018
Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation
William J Griffiths, Ian Gilmore, Eylan Yutuc, et al.
Rheumatology (Oxford, England)
|
December 14, 2020
The role of interleukin-6 trans-signalling on cardiovascular dysfunction in inflammatory arthritis
Ruth Davies, Jessica Williams, Katie Sime, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
March 4, 2011
In vivo functional analysis and genetic modification of in vitro-derived mouse neutrophils
Jacqueline U McDonald, Andrea Cortini, Marcela Rosas, et al.
Page
of 26