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M

Michel Tchan

University College London Hospitals NHS Foundation Trust
H指数:31
被引数:3,121

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Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

成人鞘磷脂酶缺乏症患者经Olipudase Alfa酶替代疗法治疗5年后临床结局持续改善：ASCEND试验最终结果

Journal of Inherited Metabolic Disease
IF3.8
2026-04-280
OAAI
Wasserstein, Melissa P.; Hollak, Carla E.; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B.; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Thurberg, Beth L.; Villarrubia, Jesus; Armstrong, Nicole M.; Bhushan, Shashi; Kim, Yong; Kumar, Monica
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C

2025年尼曼-皮克病C型的共识临床管理指南

Journal of Inherited Metabolic Disease
IF3.8
2026-04-260
OAAI
Tarekegn Hiwot; Forbes D. Porter; Tatiana Bremova-Ertl; Uma Ramaswami; Caroline Hastings; Bénédicte Héron; Justin Hopkin; Joella Melville; Hernan Amartino; Mireia del Toro; Federica Deodato; Fatih Ezgü; Paul Gissen; James B. Gibson; Can Ficicioglu; Roberto Giugliani; Orna Staretz-Chacham; Frances Platt; Nathalie Guffon; Kristina Julich; Nikola Kresojević; Anna Lehman; Yann Nadjar; Susanne A. Schneider; Simon Jones; Eugen Mengel; Michel Tchan; Mark Walterfang; Ozlem Goker-Alpan; Charlotte Dawson; Sandra Cowie; Toni Mathieson; Elizabeth Berry-Kravis; Marc C. Patterson
Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2025-02-251
OA
Rudaks, Laura Ivete; Stevanovski, Igor; Yeow, Dennis; Reis, Andre L. M.; Chintalaphani, Sanjog R.; Cheong, Pak Leng; Gamaarachchi, Hasindu; Worgan, Lisa; Ahmad, Kate; Hayes, Michael; Hannaford, Andrew; Kim, Samuel; Fung, Victor S. C.; Halmagyi, Gabor M.; Martin, Andrew; Manser, David; Tchan, Michel; Ng, Karl; Kennerson, Marina L.; Deveson, Ira W.; Kumar, Kishore Raj
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group

不同遗传代谢病在成人代谢中心的频率：10年后，SSIEM成人代谢医师组的另一份报告

JOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
2025-02-060
PRE
Tchan, Michel; Lehman, Anna; van Dussen, Laura; Langendonk, Janneke G.; Janssen, Mirian C. H.; Langeveld, Mirjam; Murphy, Elaine; Ryder, Bryony; Glamuzina, Emma; Merkel, Martin; Sechi, Annalisa; Arnoux, Jean-Baptiste; Mochel, Fanny; Alkemade, Gonnie; Maillot, Francois; Kaphan, Elsa; Mazodier, Karin; Thomas, Quentin; Leguy-Seguin, Vanessa; Marelli, Cecilia
Final results of the ASCEND trial: Continued or sustained improvements in hepatosplenomegaly, respiratory outcomes, and lipid profile after 4 years of olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency
MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-02-010
PRE
Wasserstein, Melissa; Gallagher, Renata C.; Barbato, Antonio; Guigliani, Roberto; Guelbert, Norberto; Hennermann, Julia B.; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Armstrong, Nicole M.; Srivastav, Shruti; Wisniewska, Urszula; Kumar, Monica
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023
HUMAN GENOMICS
IF4.3
2024-08-172
OAAI
Mallawaarachchi, Amali; Biros, Erik; Harris, Trudie; Bennetts, Bruce; Boughtwood, Tiffany; Elliott, Justine; Fowles, Lindsay; Gardos, Robert; Garza, Denisse; Goranitis, Ilias; Haas, Matilda; Huntley, Vanessa; Jefferis, Julia; Kassahn, Karin; Leaver, Anna; Lundie, Ben; Lunke, Sebastian; O'Connor, Caitlin; Pratt, Greg; Quinlan, Catherine; Shearman, Dianne; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; White, Julie; Wilkins, Ella; Alexander, Steve I.; Amir, Noa; Best, Stephanie; Gul, Hossai; Jayasinghe, Kushani; McCarthy, Hugh; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J.
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years
KIDNEY INTERNATIONAL REPORTS
IF5.7
2024-08-016
OAAI
Jayasinghe, Kushani; Biros, Erik; Harris, Trudie; Wood, Alasdair; O'Shea, Rosie; Hill, Lauren; Fowles, Lindsay; Wardrop, Louise; Shalhoub, Carolyn; Hahn, Deirdre; Rangan, Gopala; Kevin, Lucy; Tchan, Michel; Snelling, Paul; Sandow, Rhiannon; Sundaram, Madhivan; Chaturvedi, Swasti; Trnka, Peter; Faull, Randall; Poplawski, Nicola K.; Huntley, Vanessa; Garza, Denisse; Wallis, Mathew; Jose, Matthew; Leaver, Anna; Trainer, Alison H.; Wilkins, Ella J.; White, Sue; Elbaum, Yoni; Prawer, Yael; Krzesinski, Emma; Valente, Giulia; Winship, Ingrid; Ryan, Jessica; Whitlam, John; Nicholls, Kathy; West, Kirsty; Donaldson, Liz; Johnstone, Lilian; Lewit-Mendes, Miranda; Kerr, Peter G.; Bodek, Simon; Chakera, Aron; MacShane, Mandi; Mincham, Christine; Stackpoole, Elaine; Willis, Francis; Soraru, Jacqueline; Pachter, Nick; Bennetts, Bruce; Forbes, Thomas A.; Mallawaarachchi, Amali; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Goranitis, Illias; Best, Stephanie; Alexander, Stephen; Stark, Zornitza; Mallett, Andrew J.
Genome sequencing reanalysis increases the diagnostic yield in dystonia
PARKINSONISM & RELATED DISORDERS
IF3.4
2024-07-010
OAAI
Fellner, Avi; Wali, Gurusidheshwar M.; Mahant, Neil; Grosz, Bianca R.; Ellis, Melina; Narayanan, Ramesh K.; Ng, Karl; Davis, Ryan L.; Tchan, Michel C.; Kotschet, Katya; Yeow, Dennis; Rudaks, Laura I.; Siow, Sue-Faye; Wali, Gautam; Yiannikas, Con; Hobbs, Matthew; Copty, Joseph; Geaghan, Michael; Darveniza, Paul; Liang, Christina; Williams, Laura J.; Chang, Florence C. F.; Morales-Briceno, Hugo; Tisch, Stephen; Hayes, Michael; Whyte, Scott; Kummerfeld, Sarah; Kennerson, Marina L.; Cowley, Mark J.; Fung, Victor S. C.; Sue, Carolyn M.; Kumar, Kishore R.
Genomic Testing in Patients with Kidney Failure of an Unknown Cause A National Australian Study
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF7.1
2024-05-032
OAAI
Mallawaarachchi, Amali C.; Fowles, Lindsay; Wardrop, Louise; Wood, Alasdair; O'Shea, Rosie; Biros, Erik; Harris, Trudie; Alexander, Stephen I.; Bodek, Simon; Boudville, Neil; Burke, Jo; Burnett, Leslie; Casauria, Sarah; Chadban, Steve; Chakera, Aron; Crafter, Sam; Dai, Pei; De Fazio, Paul; Faull, Randall; Honda, Andrew; Huntley, Vanessa; Jahan, Sadia; Jayasinghe, Kushani; Jose, Matthew; Leaver, Anna; Macshane, Mandi; Madelli, Evanthia Olympia; Nicholls, Kathy; Pawlowski, Rhonda; Rangan, Gopi; Snelling, Paul; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; Wallis, Mathew; Wedd, Laura; Welland, Matthew; Whitlam, John; Wilkins, Ella J.; McCarthy, Hugh; Simons, Cas; Quinlan, Catherine; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J.
Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-04-010
PRE
Sacharow, Stephanie; Muntau, Ania C.; Bratkovic, Drago; Margvelashvili, Lali; Agladze, Dodo; Guilder, Laura; Schwartz, Ida Vanessa D.; Minami, Maria Avanise Yumi; Kiykim, Ertugrul; Guerra, Ixiu del Carmen Cabrales; Zori, Roberto; Campistol, Jaume; Oliveira, Anabela; Janeiro, Patricia; Rutsch, Frank; Lund, Allan; Mungan, Halise; Vijay, Suresh; MacDonald, Anita; Chakrapani, Anupam; Opladen, Thomas; Tchan, Michel; Ingalls, Kimberly; Hughes, Catalina; Zhao, Zhenming; Larkin, Alexandra; Smith, Neil; Lah, Melissa
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-12-028
OAAI
Wasserstein, Melissa P.; Lachmann, Robin; Hollak, Carla; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B.; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Yarramaneni, Abhimanyu; Armstrong, Nicole M.; Kim, Yong; Kumar, Monica
Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

Hmg-coa裂解酶缺乏症的治疗-10例澳大利亚病例的临床和营养管理的纵向数据

NUTRIENTS
IF5
2023-01-192
OAAI
Thompson, Susan; Hertzog, Ashley; Selvanathan, Arthavan; Batten, Kiera; Lewis, Katherine; Nisbet, Janelle; Mitchell, Ashleigh; Dalkeith, Troy; Billmore, Kate; Moore, Francesca; Tolun, Adviye Ayper; Devanapalli, Beena; Bratkovic, Drago; Hilditch, Cathie; Rahman, Yusof; Tchan, Michel; Bhattacharya, Kaustuv
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

依格列净治疗Ib型糖原贮积病的疗效和安全性: 来自国际问卷的数据

GENETICS IN MEDICINE
IF6.2
2022-08-0140
OA
Gruenert, Sarah C.; Derks, Terry G. J.; Adrian, Katarina; Al-Thihli, Khalid; Ballhausen, Diana; Bidiuk, Joanna; Bordugo, Andrea; Boyer, Monica; Bratkovic, Drago; Brunner-Krainz, Michaela; Burlina, Alberto; Chakrapani, Anupam; Corpeleijn, Willemijn; Cozens, Alison; Dawson, Charlotte; Dhamko, Helena; Milosevic, Maja Djordjevic; Eiroa, Hernan; Finezilber, Yael; Moura de Souza, Carolina Fischinger; Concepcion Garcia-Jimenez, Maria; Gasperini, Serena; Haas, Dorothea; Haeberle, Johannes; Halligan, Rebecca; Fung, Law Hiu; Hoerbe-Blindt, Alexandra; Horka, Laura Maria; Huemer, Martina; Ucar, Sema Kalkan; Kecman, Bozica; Kilavuz, Sebile; Krivan, Gergely; Lindner, Martin; Luesebrink, Natalia; Makrilakis, Konstantinos; Kwok, Anne Mei-Kwun; Maier, Esther M.; Maiorana, Arianna; McCandless, Shawn E.; Mitchell, John James; Mizumoto, Hiroshi; Mundy, Helen; Ochoa, Carlos; Pierce, Kathryn; Quijada Fraile, Pilar; Regier, Debra; Rossi, Alessandro; Santer, Rene; Schuman, Hester C.; Sobieraj, Piotr; Spenger, Johannes; Spiegel, Ronen; Stepien, Karolina M.; Tal, Galit; Tansek, Mojca Zerjav; Torkar, Ana Drole; Tchan, Michel; Thyagu, Santhosh; Vergano, Samantha A. Schrier; Vucko, Erika; Weinhold, Natalie; Zsidegh, Petra; Wortmann, Saskia B.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results
GENETICS IN MEDICINE
IF6.2
2022-07-0139
OA
Wasserstein, Melissa; Lachmann, Robin; Hollak, Carla; Arash-Kaps, Laila; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Eubekir; Tchan, Michel; Villarrubia, Jesus; Chen, Yixin; Furey, Sandy; Thurberg, Beth L.; Zaher, Atef; Kumar, Monica

研究方向

暂未获取到该数据
K
Kishore R. Kumar
H 指数:35论文数:248被引数:4,755
R
Roberto Giugliani
H 指数:80论文数:1,417被引数:2.4万
R
Robin Lachmann
H 指数:55论文数:262被引数:1.1万
T
Takayuki Ikezoe
H 指数:44论文数:407被引数:8,192
A
Antonio Barbato
H 指数:24论文数:137被引数:2,663
N
Norberto Guelbert
H 指数:21论文数:86被引数:1,331
M
Melissa Wasserstein
H 指数:51论文数:222被引数:7,413
V
Victor S.C. Fung
H 指数:52论文数:350被引数:1.2万
M
Maurizio Scarpa
H 指数:52论文数:343被引数:9,128
C
Chirag Patel
H 指数:40论文数:208被引数:4,404