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S

Saikat Santra

University College London
H指数:37
被引数:4,832

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From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series

从新生儿脑病到成人存活：多中心国际病例系列中重新审视D-双功能蛋白缺乏的自然史

JOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
2025-12-090
PRE
Diaz-Moreno, U.; Brothwell, S. L. C.; Darling, A.; Baide-Mairena, H.; Lemonde, H.; Turon-Vinas, E.; Korenev, S.; Ibanez, S.; Beesley, C.; Gissen, P.; Parida, A.; Santra, S.; Wassmer, E.; Batzios, S.
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series

儿童中biallelic RCC1变异者在感染后出现的急性起病轴索神经病：一个病例系列

lancet neurology
IF0
2025-07-160
OAAI
J Robert Harkness; John H McDermott; Shea Marsden; Peter Jamieson; Kay A Metcalfe; Naz Khan; William L Macken; Robert D S Pitceathly; Christopher J Record; Reza Maroofian; Kleopas Kleopa; Kyproula Christodoulou; Ataf Sabir; Lily Islam; Saikat Santra; Enise Avci Durmusalioglu; Tahir Atik; Esra Isik; Ozgur Cogulu; Jill E Urquhart; Glenda M Beaman; Leigh A Demain; Adam Jackson; Alexander J M Blakes; Helen J Byers; Hayley Bennett; Wei-Hsiang Lin; Antony Adamson; Sanjai Patel; Wyatt W Yue; Robert W Taylor; Janine Reunert; Thorsten Marquardt; Rebecca Buchert; Tobias Haack; Heike Losch; Lukas Ryba; Petra Lassuthova; Radka Valkovičová; Jana Haberlová; Barbora Lauerová; Eva Trúsiková; Kiran Polavarapu; Ozge Aksel Kilicarslan; Hanns Lochmüller; Mina Zamani; Niloofar Chamanrou; Gholamreza Shariati; Saeid Sadeghian; Reza Azizimalamiri; Sateesh Maddirevula; Muhammad AlMuhaizea; Fowzan S Alkuraya; Rita Horvath; Serdal Gungor; Adnan Manzur; Pinki Munot; Rachael Matthews; Siddharth Banka; Mary M Reilly; Daimark Bennett; Raymond T O’Keefe; William G Newman
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial

Arimoclomol在尼曼-皮克病C型中的长期疗效与安全性：NPC-002 48个月开放标签扩展试验2/3期的最终结果

Molecular Genetics and Metabolism
IF3.5
2025-07-070
PRE
Eugen Mengel; Rosalia M. Da Riol; Mireia Del Toro; Federica Deodato; Matthias Gautschi; Stephanie Grunewald; Sabine Weller Grønborg; Paul Harmatz; Julia B. Hennermann; Bénédicte Héron; Esther M. Maier; Saikat Santra; Reena Sharma; Anna Tylki-Szymanska; Malene Cording; Louise Himmelstrup; Sven Guenther; Christine í Dali
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
EPILEPSIA
IF6.6
2023-04-105
OAAI
Elkhateeb, Nour; Olivieri, Giorgia; Siri, Barbara; Boyd, Stewart; Stepien, Karolina M.; Sharma, Reena; Morris, Andrew A. M.; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Bernhardt, Isaac; Sudakhar, Sniya; Chan, Alicia; Mills, Philippa; Ridout, Debora; Gissen, Paul; Dionisi-Vici, Carlo; Baruteau, Julien
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-03-010
PRE
Schwahn, Bernd C.; Berry, Gerard T.; Santra, Saikat; Vernon, Hilary; Li, Hong; Merritt, Lawrence, II; Schiff, Manuel; Chabrol, Brigitte; De las Heras, Javier; Vockley, Jerry; Lee, Chung; Koeberl, Dwight; Burton, Barbara; Grunewald, Stephanie; Morgan, Thomas; Diaz, George; Ficicioglu, Can; Luo, Junxiang; Attarwala, Husain; Sikirica, Vanja; Liang, Min; Guey, Lin T.; Lukacs, Christine; Martini, Paolo G. V.; Glaser, Ruchira; Carrillo, Nuria
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN METHYLMALONIC ACIDEMIA DUE TO MUT DEFICIENCY
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-03-010
PRE
Schiff, Manuel; Schwahn, Bernd C.; Chabrol, Brigitte; Merritt, J. Lawrence, II; Vockley, Jerry; Vernon, Hilary; Berry, Gerard T.; Santra, Saikat; Lee, Chung; Koeberl, Dwight; Li, Hong; Burton, Barbara; De las Heras, Javier; Diaz, George; Faria-Urbina, Mariana; Luo, Junxiang; Attarwala, Husain; Sikirica, Vanja; Liang, Min; Guey, Lin T.; Lukacs, Christine; Martini, Paolo G. V.; Glaser, Ruchira; Carrillo, Nuria
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2022-02-1424
OAAI
Bolton, Shaun C.; Soran, Vina; Marfa, Mercedes Pineda; Imrie, Jackie; Gissen, Paul; Jahnova, Helena; Sharma, Reena; Jones, Simon; Santra, Saikat; Crushell, Ellen; Stampfer, Miriam; Coll, Maria Jose; Dawson, Charlotte; Mathieson, Toni; Green, James; Dardis, Andrea; Bembi, Bruno; Patterson, Marc C.; Vanier, Marie T.; Geberhiwot, Tarekegn
Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal phase 2/3 study

arimoclomol对C型niemann-pick病患者的持续作用: 关键2/3期研究的开放标签扩展的24个月结果

MOLECULAR GENETICS AND METABOLISM
IF3.5
2022-02-010
PRE
Patterson, Marc; Mengel, Eugen; Da Rio, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I.
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study (vol 15, 328, 2020)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-06-011
OAAI
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; Dali, Christine i
Persistent effect of arimoclomol in patients with Nuemann-Pick disease type C: 12-month results from an open-label extension of a pivotal phase 2/3 study
MOLECULAR GENETICS AND METABOLISM
IF3.5
2021-02-010
PREAI
Patterson, Marc C.; Mengel, Eugen; Da Riol, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I.
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2020-11-2315
OAAI
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; i Dali, Christine
Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo controlled trial with a novel treatment
MOLECULAR GENETICS AND METABOLISM
IF3.5
2020-02-011
PREAI
Patterson, Marc; Mengel, Eugen; Bembi, Bruno; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron-Longe, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Ingemann, Linda; Petersen, Nikolaj H. T.; Jensen, Thomas Kirkegaard; Dali, Christine I.

研究方向

暂未获取到该数据
R
Robert W. Taylor
H 指数:97论文数:763被引数:3.9万
E
Evangeline Wassmer
H 指数:62论文数:256被引数:1.4万
C
Christian J. Hendriksz
H 指数:45论文数:212被引数:6,630
S
Stephanie Grünewald
H 指数:46论文数:195被引数:7,086
A
Anita MacDonald
H 指数:47论文数:352被引数:1.4万
S
Simon Jones
H 指数:59论文数:502被引数:1.0万
M
Matthias Gautschi
H 指数:28论文数:99被引数:4,166
T
Tarekegn Geberhiwot
H 指数:32论文数:184被引数:3,428
A
Anne Daly
H 指数:26论文数:149被引数:2,136
F
Federica Deodato
H 指数:31论文数:103被引数:3,260