Not logged in Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy de Puyraimond, Chloe; Pichard, Samia; Girard, Muriel; Delanne, Julian; Faivre, Laurence; Imbard, Apolline; Baurand, Amandine; Benoist, Jean-Francois; Mills, Philippa B.; Clayton, Peter T.; Schiff, Manuel Share Save
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Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C Motamed-Gorji, Nazgol; Khalil, Youssef; Gonzalez-Robles, Cristina; Khan, Shamsher; Mills, Philippa; Garcia-Moreno, Hector; Ging, Heather; Tariq, Ambreen; Clayton, Peter T.; Giunti, Paola Share Save
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis Kiss, Robert S.; Chicoine, Jarred; Khalil, Youssef; Sladek, Robert; Chen, He; Pisaturo, Alessandro; Martin, Cyril; Dale, Jessica D.; Brudenell, Tegan A.; Kamath, Archith; Kyei-Boahen, Jeffrey; Hafiane, Anouar; Daliah, Girija; Alecki, Celia; Hopes, Tayah S.; Heier, Martin; Aligianis, Irene A.; Lebrun, Jean -Jacques; Aspden, Julie; Paci, Emanuele; Kerksiek, Anja; Luetjohann, Dieter; Clayton, Peter; Wills, Jimi C.; von Kriegsheim, Alex; Nilsson, Tommy; Sheridan, Eamonn; Handley, Mark T. Share Save
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis Kozich, Viktor; Schwahn, Bernd C.; Sokolova, Jitka; Krizkova, Michaela; Ditroi, Tamas; Krijt, Jakub; Khalil, Youssef; Krizek, Tomas; Vaculikova-Fantlova, Tereza; Stiburkova, Blanka; Mills, Philippa; Clayton, Peter; Barvikova, Kristyna; Blessing, Holger; Sykut-Cegielska, Jolanta; Dionisi-Vici, Carlo; Gasperini, Serena; Garcia-Cazorla, Angeles; Haack, Tobias B.; Honzik, Tomas; Jesina, Pavel; Kuster, Alice; Laugwitz, Lucia; Martinelli, Diego; Porta, Francesco; Santer, Rene; Schwarz, Guenter; Nagy, Peter Share Save
Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry Yutuc, Eylan; Dickson, Alison L.; Pacciarini, Manuela; Griffiths, Lauren; Baker, Paul R. S.; Connell, Lisa; Ohman, Anders; Forsgren, Lars; Trupp, Miles; Vilarinho, Silvia; Khalil, Youssef; Clayton, Peter T.; Sari, Sinan; Dalgic, Buket; Hoeflinger, Philip; Schoels, Ludger; Griffiths, William J.; Wang, Yuqin Share Save
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea Gao, Emily; Cheema, Huma; Waheed, Nadia; Mushtaq, Iqra; Erden, Nihan; Nelson-Williams, Carol; Jain, Dhanpat; Soroka, Carol J.; Boyer, James L.; Khalil, Youssef; Clayton, Peter T.; Mistry, Pramod K.; Lifton, Richard P.; Vilarinho, Silvia Share Save
Improved specificity for detection of Niemann-Pick disease type C and other glycosphingolipidoses using a multiplex bloodspot assay Doykov, Ivan D.; Papandreou, Apostolos; Spiewak, Justyna; Hallqvist, Jenny; Kurian, Manju; Mills, Philippa; Clayton, Peter; Gissen, Paul; Mills, Kevin; Heywood, Wendy Share Save
Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C[S] Maekawa, Masamitsu; Jinnoh, Isamu; Narita, Aya; Iida, Takashi; Saigusa, Daisuke; Iwahori, Anna; Nittono, Hiroshi; Okuyama, Torayuki; Eto, Yoshikatsu; Ohno, Kousaku; Clayton, Peter T.; Yamaguchi, Hiroaki; Mano, Nariyasu Share Save
INHERITED PERIPHERAL NEUROPATHIES: ANALYSIS OF PDXK GENE IDENTIFIES A NEW TREATABLE DISORDER Chelban, Viorica; Wilson, Matthew; Zanetti, Natalia; Zamba-Papanicolaou, Eleni; Conte, Maria; Cordivari, Carla; Mills, Philippa; Wood, Nicholas; Clayton, Peter; Houlden, Henry Share Save
INHERITED PERIPHERAL NEUROPATHIES: ANALYSIS OF PDXK GENE IDENTIFIES A NEW TREATABLE DISORDER Chelban, Viorica; Wilson, Matthew P.; Chardon, Jodi Warman; Vandrovcova, Jana; Zanetti, M. Natalia; Zamba-Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R.; Abis, Giancarlo; Liu, Yo-Tsen; Tribollet, Eloise; Haridy, Nourelhoda A.; Botia, Juan A.; Ryten, Mina; Nicolaou, Paschalis; Minaidou, Anna; Christodoulou, Kyproula; Kernohan, Kristin D.; Eaton, Alison; Osmond, Matthew; Ito, Yoko; Bourque, Pierre; Jepson, James E. C.; Bello, Oscar; Bremner, Fion; Cordivari, Carla; Reilly, Mary M.; Foiani, Martha; Heslegrave, Amanda; Zetterberg, Henrik; Heales, Simon J. R.; Wood, Nicholas W.; Rothman, James E.; Boycott, Kym M.; Mills, Philippa B.; Clayton, Peter T.; Houlden, Henry Share Save
Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease Doykov, Ivan D.; Heywood, Wendy E.; Nikolaenko, Valeria; Spiewak, Justyna; Hallqvist, Jenny; Clayton, Peter Theodore; Mills, Philippa; Warnock, David G.; Nowak, Albina; Mills, Kevin Share Save
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation Chelban, Viorica; Wilson, Matthew P.; Chardon, Jodi Warman; Vandrovcova, Jana; Zanetti, M. Natalia; Zamba-Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R.; Abis, Giancarlo; Liu, Yo-Tsen; Tribollet, Eloise; Haridy, Nourelhoda A.; Botia, Juan A.; Ryten, Mina; Nicolaou, Paschalis; Minaidou, Anna; Christodoulou, Kyproula; Kernohan, Kristin D.; Eaton, Alison; Osmond, Matthew; Ito, Yoko; Bourque, Pierre; Jepson, James E. C.; Bello, Oscar; Bremner, Fion; Cordivari, Carla; Reilly, Mary M.; Foiani, Martha; Heslegrave, Amanda; Zetterberg, Henrik; Heales, Simon J. R.; Wood, Nicholas W.; Rothman, James E.; Boycott, Kym M.; Mills, Philippa B.; Clayton, Peter T.; Houlden, Henry Share Save
Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C Maekawa, Masamitsu; Narita, Aya; Jinnoh, Isamu; Iida, Takashi; Marquardt, Thorsten; Mengel, Eugen; Eto, Yoshikatsu; Clayton, Peter T.; Yamaguchi, Hiroaki; Mano, Nariyasu Share Save
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 Bryant, Dale; Liu, Yang; Datta, Sanchari; Hariri, Hanaa; Seda, Marian; Anderson, Glenn; Peskett, Emma; Demetriou, Charalambos; Sousa, Sergio; Jenkins, Dagan; Clayton, Peter; Bitner-Glindzicz, Maria; Moore, Gudrun E.; Henne, W. Mike; Stanier, Philip Share Save
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