Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marcus Oppenheim"'
Autor:
Kevin Mills, Emma Footitt, Marcus Oppenheim, Peter E. Clayton, Simon Heales, Viruna Neergheen, Philippa B. Mills
Publikováno v:
Journal of Inherited Metabolic Disease. 36:139-145
Vitamin B(6) dependent seizure disorders are an important and treatable cause of childhood epilepsy. The molecular and biochemical basis for some of these disorders has only recently been elucidated and it is likely that inborn errors affecting other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b63ccb0762f4b305078038ea49521b
https://doi.org/10.1007/s10545-012-9493-y
https://doi.org/10.1007/s10545-012-9493-y
Autor:
Philippa B. Mills, George F. G. Allen, Simon Heales, Marcus Oppenheim, Peter E. Clayton, Emma Footitt
Publikováno v:
Journal of Inherited Metabolic Disease. 34:529-538
Analysis of pyridoxal 5'-phosphate (PLP) concentration in 256 cerebrospinal fluid (CSF) samples from patients with neurological symptoms showed that the variance is greater than indicated by previous studies. The age-related lower reference limit has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16c7a2401212b91dd864e5b6cb7169b6
https://doi.org/10.1007/s10545-011-9279-7
https://doi.org/10.1007/s10545-011-9279-7
Autor:
Iain P. Hargreaves, PB Mills, Simon Pope, Raquel Montero, Laura Altimira, Plácido Navas, Simon Jones, Arunabha Ghosh, Cristina Sierra, Emma Footitt, Simon Heales, Peter E. Clayton, Mercè Pineda, Rafael Artuch, Verónica Delgadillo, Delia Yubero, Viruna Neergheen, Maureen Cleary, Silvia Meavilla, Marcus Oppenheim, Mar O'Callaghan
Publikováno v:
JIMD Reports ISBN: 9783662496671
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficiencies of lysosomal enzymes catalyzing degradation of glycosaminoglycans (GAGs). Previously, we reported a secondary plasma coenzyme Q10 (CoQ) deficiency in MPS pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e6cc4a71fcbc3548625737228730463
https://doi.org/10.1007/8904_2015_421
https://doi.org/10.1007/8904_2015_421
Autor:
Dèlia, Yubero, Raquel, Montero, Mar, O'Callaghan, Mercè, Pineda, Silvia, Meavilla, Veronica, Delgadillo, Cristina, Sierra, Laura, Altimira, Plácido, Navas, Simon, Pope, Marcus, Oppenheim, Viruna, Neergheen, Arunabha, Ghosh, Phillipa, Mills, Peter, Clayton, Emma, Footitt, Maureen, Cleary, Iain, Hargreaves, Simon A, Jones, Simon, Heales, Rafael, Artuch
Publikováno v:
JIMD reports. 25
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficiencies of lysosomal enzymes catalyzing degradation of glycosaminoglycans (GAGs). Previously, we reported a secondary plasma coenzyme Q10 (CoQ) deficiency in MPS pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9cc32cdc0bfefe5280d36ed46be6925c
https://pubmed.ncbi.nlm.nih.gov/26205433
https://pubmed.ncbi.nlm.nih.gov/26205433
Autor:
George F G, Allen, Viruna, Neergheen, Marcus, Oppenheim, Julia C, Fitzgerald, Emma, Footitt, Keith, Hyland, Peter T, Clayton, John M, Land, Simon J R, Heales
Publikováno v:
Journal of neurochemistry. 114(1)
Pyridoxal 5'-phosphate, the active form of vitamin B(6), is an essential cofactor for multiple enzymes, including aromatic l-amino acid decarboxylase that catalyses the final stage in the production of the neurotransmitters dopamine and serotonin. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dbb19471f8aa1ebc3e3449de466338fc
https://pubmed.ncbi.nlm.nih.gov/20403077
https://pubmed.ncbi.nlm.nih.gov/20403077
Autor:
John M. Land, Marcus Oppenheim, Viruna Neergheen, Emma Footitt, Peter E. Clayton, George F. G. Allen, Simon Heales, Julia C. Fitzgerald, Keith Hyland
Publikováno v:
Journal of Neurochemistry.
Pyridoxal 5'-phosphate, the active form of vitamin B(6), is an essential cofactor for multiple enzymes, including aromatic l-amino acid decarboxylase that catalyses the final stage in the production of the neurotransmitters dopamine and serotonin. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a6c601ef77b5e9954f981b92270bbfa
https://doi.org/10.1111/j.1471-4159.2010.06742.x
https://doi.org/10.1111/j.1471-4159.2010.06742.x
Autor:
Angels García-Cazorla, Rafael Artuch, Keith Hyland, Jaume Campistol, Angeles Ruiz, Mercedes Serrano, Peter E. Clayton, Juan Antonio Moreno, Marcus Oppenheim, Simon Heales, Antonia Ribes, Aida Ormazabal
Publikováno v:
Molecular genetics and metabolism. 94(2)
Our aim was to establish reference values for cerebrospinal fluid (CSF) pyridoxal 5′-phosphate (PLP) in a paediatric population for the diagnosis of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency. For reference values, CSF samples from 113
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa371f15dd5bdcb419fb209f252bec3
https://pubmed.ncbi.nlm.nih.gov/18294893
https://pubmed.ncbi.nlm.nih.gov/18294893