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Author/Creator Mills, Philippa

1. 272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder. Issue 12 (14th November 2019)

Authors:
Chelban, Viorica; Wilson, Matthew; Zanetti, Natalia; Zamba-Papanicolaou, Eleni; Conte, Maria; Cordivari, Carla; Mills, Philippa; Wood, Nicholas; Clayton, Peter; Houlden, Henry
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 90:Issue 12(2019)
Page Start:
e64
Record Type:
Journal Article
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3. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency. Issue 1 (1st December 2020)

Authors:
Coughlin, Curtis R.; Tseng, Laura A.; Abdenur, Jose E.; Ashmore, Catherine; Boemer, François; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Clayton, Peter T.; Das, Anibh; Dekker, Hanka; Evangeliou, Athanasios; Feillet, François; Footitt, Emma J.; Gospe, Sidney M.; Hartmann, Hans; Kara, Majdi; K...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 1(2021)
Page Start:
178
Record Type:
Journal Article
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4. Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses. Issue 2 (1st October 2019)

Authors:
Patel, Nina; Mills, Philippa; Davison, James; Cleary, Maureen; Gissen, Paul; Banushi, Blerida; Doykov, Ivan; Dorman, Megan; Mills, Kevin; Heywood, Wendy E.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 2(2020)
Page Start:
309
Record Type:
Journal Article
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5. Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease. Issue 11 (27th May 2016)

Authors:
Mazzacuva, Francesca; Mills, Philippa; Mills, Kevin; Camuzeaux, Stephane; Gissen, Paul; Nicoli, Elena‐Raluca; Wassif, Christopher; te Vruchte, Danielle; Porter, Forbes D.; Maekawa, Masamitsu; Mano, Nariyasu; Iida, Takashi; Platt, Frances; Clayton, Peter T.
Journal:
FEBS letters
Issue:
Volume 590:Issue 11(2016)
Page Start:
1651
Record Type:
Journal Article
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6. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Issue 2 (26th November 2016)

Authors:
Matalonga, Leslie; Bravo, Miren; Serra‐Peinado, Carla; García‐Pelegrí, Elisabeth; Ugarteburu, Olatz; Vidal, Silvia; Llambrich, Maria; Quintana, Ester; Fuster‐Jorge, Pedro; Gonzalez‐Bravo, Maria Nieves; Beltran, Sergi; Dopazo, Joaquin; Garcia‐Garcia, Francisco; Foulquier, François; Matthijs, Gert;...
Journal:
Human mutation
Issue:
Volume 38:Issue 2(2017)
Page Start:
148
Record Type:
Journal Article
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7. Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease. Issue 1 (13th September 2019)

Authors:
Doykov, Ivan D; Heywood, Wendy E; Nikolaenko, Valeria; Śpiewak, Justyna; Hällqvist, Jenny; Clayton, Peter Theodore; Mills, Philippa; Warnock, David G; Nowak, Albina; Mills, Kevin
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 1(2020)
Page Start:
38
Record Type:
Journal Article
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8. TRNT1 deficiency: clinical, biochemical and molecular genetic features. Issue 1 (December 2016)

Authors:
Wedatilake, Yehani; Niazi, Rojeen; Fassone, Elisa; Powell, Christopher; Pearce, Sarah; Plagnol, Vincent; Saldanha, José; Kleta, Robert; Chong, W; Footitt, Emma; Mills, Philippa; Taanman, Jan-Willem; Minczuk, Michal; Clayton, Peter; Rahman, Shamima
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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