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E

Esther M. Maier

newborn screening
H指数:37
被引数:4,262

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Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et al

关于“苯丙氨酸羟化酶缺乏症的诊断与管理：美国医学遗传学与基因组学学院（ACMG）2023年循证临床指南”的通信，由Smith等人撰写

Genetics in Medicine
IF6.2
2026-01-060
PRE
Peter Burgard; Diana Ballhausen; Julia B. Hennermann; Georg F. Hoffmann; Stefan Kölker; Vassiliki Konstantopoulou; Robin Lachmann; Esther M. Maier; Elaine Murphy; Kurt Ullrich; Athanasia Ziagaki; Johannes Zschocke; Martin Lindner
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
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications

线粒体3-羟基-3-甲基戊二酰辅酶A合酶缺乏症：从代谢到临床意义

Genetics in Medicine
IF6.2
2025-06-110
OA
Sarah C. Grünert; Matthias R. Baumgartner; Juliette Bouchereau; Alberto Burlina; Peter T. Clayton; Javier de las Heras; Carlo Dionisi-Vici; Corinne Gemperle-Britschgi; Claudia Haase; Stanley H. Korman; Johannes Krämer; Eva Kühlwein; Esther M. Maier; Arianna Maiorana; Manuel Schiff; Carl Ulrich Schmid; Trine Tangeraas; Raina Yamamoto; Johannes Zschocke; Jörn Oliver Sass
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-01-233
OA
Muetze, Ulrike; Ottenberger, Alina; Gleich, Florian; Maier, Esther M.; Lindner, Martin; Husain, Ralf A.; Palm, Katja; Beblo, Skadi; Freisinger, Peter; Santer, Rene; Thimm, Eva; vom Dahl, Stephan; Weinhold, Natalie; Grohmann-Held, Karina; Haase, Claudia; Hennermann, Julia B.; Hoerbe-Blindt, Alexandra; Kamrath, Clemens; Marquardt, Iris; Marquardt, Thorsten; Behne, Robert; Haas, Dorothea; Spiekerkoetter, Ute; Hoffmann, Georg F.; Garbade, Sven F.; Gruenert, Sarah C.; Koelker, Stefan
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.
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.
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study (vol 11, 19300, 2021)
SCIENTIFIC REPORTS
IF3.9
2021-10-120
OAAI
Martner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Grunert, Sarah C.; Kramer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Nake, Andrea; Hoffmann, Georg F.; Muhlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Kolker, Stefan; Boy, Nikolas
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
BRAIN
IF11.7
2021-09-3023
OA
Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane; Oexle, Konrad
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
SCIENTIFIC REPORTS
IF3.9
2021-09-2920
OAAI
Maertner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Kraemer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Naeke, Andrea; Hoffmann, Georg F.; Muehlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Koelker, Stefan; Boy, Nikolas
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

新生儿筛查漏诊的I型戊二酸尿症：来自三个家系的四例报告

INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2021-06-187
OAAI
Spenger, Johannes; Maier, Esther M.; Wechselberger, Katharina; Bauder, Florian; Kocher, Melanie; Sperl, Wolfgang; Preisel, Martin; Schiergens, Katharina A.; Konstantopoulou, Vassiliki; Roeschinger, Wulf; Haberle, Johannes; Schmitt-Mechelke, Thomas; Wortmann, Saskia B.; Fingerhut, Ralph
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
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
BRAIN
IF11.7
2020-08-0619
OAAI
Schneeberger, Pauline E.; Kortum, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Rodriguez Alonso, Aroa; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja; Kutsche, Kerstin

研究方向

暂未获取到该数据
G
Georg F. Hoffmann
H 指数:101论文数:1,118被引数:3.8万
W
Wulf Röschinger
H 指数:26论文数:91被引数:2,852
S
Stefan Kölker
H 指数:61论文数:823被引数:1.2万
K
Katharina A. Schiergens
H 指数:11论文数:36被引数:326
R
Ralph Fingerhut
H 指数:37论文数:126被引数:4,218
M
Matthias Gautschi
H 指数:28论文数:99被引数:4,166
F
Federica Deodato
H 指数:31论文数:103被引数:3,260
S
Sarah C. Grünert
H 指数:31论文数:169被引数:4,545
P
Peter Freisinger
H 指数:52论文数:208被引数:8,453
M
Mireia del Toro
H 指数:25论文数:99被引数:3,134