المؤلفون: Valayannopoulos, Vassili, Malinova, Vera, Honzík, Tomas, Balwani, Manisha, Breen, Catherine, Deegan, Patrick B, Enns, Gregory M, Jones, Simon A, Kane, John P, Stock, Eveline O, Tripuraneni, Radhika, Eckert, Stephen, Schneider, Eugene, Hamilton, Gavin, Middleton, Michael S, Sirlin, Claude, Kessler, Bruce, Bourdon, Christopher, Boyadjiev, Simeon A, Sharma, Reena, Twelves, Chris, Whitley, Chester B, Quinn, Anthony G

المصدر: Journal of hepatology. 61(5)

مصطلحات موضوعية: Liver, Humans, Wolman Disease, Alanine Transaminase, Aspartate Aminotransferases, Lipids, Recombinant Proteins, Drug Administration Schedule, Adult, Middle Aged, Female, Male, Sterol Esterase, Young Adult, Dyslipidemia, Enzyme replacement, Fatty liver, Hepatomegaly, Lysosomal storage, Gastroenterology & Hepatology, Clinical Sciences, Public Health and Health Services

URL الوصول: https://escholarship.org/uc/item/7jr1844c

المؤلفون: Balwani, Manisha, Breen, Catherine, Enns, Gregory M, Deegan, Patrick B, Honzík, Tomas, Jones, Simon, Kane, John P, Malinova, Vera, Sharma, Reena, Stock, Eveline O, Valayannopoulos, Vassili, Wraith, J Edmond, Burg, Jennifer, Eckert, Stephen, Schneider, Eugene, Quinn, Anthony G

المصدر: Hepatology. 58(3)

مصطلحات موضوعية: Rare Diseases, Clinical Research, Clinical Trials and Supportive Activities, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adult, Alanine Transaminase, Aspartate Aminotransferases, Cholesterol Ester Storage Disease, Cholesterol, HDL, Cholesterol, LDL, Dose-Response Relationship, Drug, Female, Humans, Liver, Male, Middle Aged, Recombinant Proteins, Sterol Esterase, Treatment Outcome, Triglycerides, Medical Biochemistry and Metabolomics, Clinical Sciences, Immunology, Gastroenterology & Hepatology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4b21j37t

المؤلفون: Bremova‐Ertl, Tatiana, Abel, Larry, Walterfang, Mark, Salsano, Ettore, Ardissone, Anna, Malinová, Věra, Kolníková, Miriam, Gascón Bayarri, Jordi, Reza Tavasoli, Ali, Reza Ashrafi, Mahmoud, Amraoui, Yasmina, Mengel, Eugen, Kolb, Stefan A., Brecht, Andreas, Bardins, Stanislavs, Strupp, Michael

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Trastorns del metabolisme, Manifestacions oculars de les malalties, Disorders of metabolism, Ocular manifestations of general diseases

وصف الملف: 12 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1111/ene.14955; European Journal of Neurology, 2021, vol. 28, num. 9, p. 3040-3050; https://doi.org/10.1111/ene.14955; http://hdl.handle.net/2445/179330

الاتاحة: http://hdl.handle.net/2445/179330

المؤلفون: Malinová, Vĕra, Balwani, Manisha, Sharma, Reena, Arnoux, Jean‐Baptiste, Kane, John, Whitley, Chester B., Marulkar, Sachin, Abel, Florian

المصدر: Liver International ; volume 40, issue 9, page 2203-2214 ; ISSN 1478-3223 1478-3231

الاتاحة: http://dx.doi.org/10.1111/liv.14603
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fliv.14603
https://onlinelibrary.wiley.com/doi/pdf/10.1111/liv.14603
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/liv.14603

المؤلفون: Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolnikova, Miriam, Malinova, Vera, Insua, Jose Luis, Velten, Christian, Kolb, Stefan A.

المصدر: Orphanet Journal of Rare Diseases ; volume 14, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-019-0996-6
http://link.springer.com/content/pdf/10.1186/s13023-019-0996-6.pdf
http://link.springer.com/article/10.1186/s13023-019-0996-6/fulltext.html

المؤلفون: Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolniková, Miriam, Malinová, Věra, Torres, Juan, Kolb, Stefan A.

المساهمون: Actelion Pharmaceuticals

المصدر: Orphanet Journal of Rare Diseases ; volume 14, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-019-1124-3
http://link.springer.com/content/pdf/10.1186/s13023-019-1124-3.pdf
http://link.springer.com/article/10.1186/s13023-019-1124-3/fulltext.html

المؤلفون: Kishnani, Priya S., Diaz-Manera, Jordi, Toscano, Antonio, Clemens, Paula R., Ladha, Shafeeq, Berger, Kenneth I., Kushlaf, Hani, Straub, Volker, Carvalho, Gerson, Mozaffar, Tahseen, Roberts, Mark, Attarian, Shahram, Chien, Yin-Hsiu, Choi, Young-Chul, Day, John W., Erdem-Ozdamar, Sevim, Illarioshkin, Sergey, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, van der Ploeg, Ans T., An Haack, Kristina, Huynh-Ba, Olivier, Tammireddy, Swathi, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M., Schoser, Benedikt, Behin, Anthony, Boentert, Matthias, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D., Hennermann, Julia B., Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa

المصدر: JAMA Neurology ; volume 80, issue 6, page 558 ; ISSN 2168-6149

الاتاحة: http://dx.doi.org/10.1001/jamaneurol.2023.0552
https://jamanetwork.com/journals/jamaneurology/articlepdf/2802973/jamaneurology_kishnani_2023_oi_230015_1686342408.6957.pdf

المؤلفون: Bremova-Ertl, Tatiana, Schiffmann, Raphael, Patterson, Marc, C., Belmatoug, Nadia, Billette de Villemeur, Thierry, Bardins, Stanislavs, Frenzel, Claudia, Malinová, Věra, Naumann, Silvia, Arndt, Juliane, Mengel, Eugen, Reinke, Jörg, Strobl, Ralf, Strupp, Michael

المساهمون: University-Hospital Munich-Großhadern München, Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Bayler Scott and White Research Institute Dallas, Mayo Clinic Rochester, Referral Center for Lysosomal Diseases (RCLD), Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Pathologies Congénitales du Cervelet-LeucoDystrophies (GRC 19 ConCer-LD), Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), General University Hospital in Prague, Johannes Gutenberg - Universität Mainz = Johannes Gutenberg University (JGU)

المصدر: ISSN: 1664-2295 ; Frontiers in Neurology ; https://hal.sorbonne-universite.fr/hal-01700711 ; Frontiers in Neurology, 2018, 8, pp.711. ⟨10.3389/fneur.2017.00711⟩.

مصطلحات موضوعية: [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: hal-01700711; https://hal.sorbonne-universite.fr/hal-01700711; https://hal.sorbonne-universite.fr/hal-01700711/document; https://hal.sorbonne-universite.fr/hal-01700711/file/fneur-08-00711.pdf

الاتاحة: https://hal.sorbonne-universite.fr/hal-01700711
https://hal.sorbonne-universite.fr/hal-01700711/document
https://hal.sorbonne-universite.fr/hal-01700711/file/fneur-08-00711.pdf
https://doi.org/10.3389/fneur.2017.00711

المؤلفون: Burton, Barbara K, Deegan, Patrick B, Enns, Gregory M, Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K, Lobritto, Steve J, Malinova, Vera, Mclin, Valérie Anne, Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut-Cegielska, Jolanta, Whitley, Chester B, Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G

المصدر: ISSN: 0277-2116 ; Journal of pediatric gastroenterology and nutrition, vol. 61, no. 6 (2015) p. 619-625.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618

Relation: info:eu-repo/semantics/altIdentifier/pmid/26252914; https://archive-ouverte.unige.ch/unige:76293; unige:76293

الاتاحة: https://archive-ouverte.unige.ch/unige:76293

المؤلفون: Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut‐Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.

المصدر: Journal of Pediatric Gastroenterology and Nutrition ; volume 61, issue 6, page 619-625 ; ISSN 0277-2116 1536-4801

الاتاحة: http://dx.doi.org/10.1097/mpg.0000000000000935
https://onlinelibrary.wiley.com/doi/pdf/10.1097/MPG.0000000000000935

المؤلفون: Diaz-Manera, Jordi, Kishnani, Priya S, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, Schoser, Benedikt, Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera

المساهمون: Sanofi Genzyme

المصدر: The Lancet Neurology ; volume 20, issue 12, page 1012-1026 ; ISSN 1474-4422

الاتاحة: http://dx.doi.org/10.1016/s1474-4422(21)00241-6
https://api.elsevier.com/content/article/PII:S1474442221002416?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1474442221002416?httpAccept=text/plain

المؤلفون: Jurecka, Agnieszka, Zakharova, Ekaterina, Malinova, Vera, Voskoboeva, Elena, Tylki-Szymańska, Anna

المصدر: Clinical Rheumatology ; volume 33, issue 5, page 725-731 ; ISSN 0770-3198 1434-9949

الاتاحة: http://dx.doi.org/10.1007/s10067-013-2423-z
http://link.springer.com/content/pdf/10.1007/s10067-013-2423-z.pdf
http://link.springer.com/article/10.1007/s10067-013-2423-z/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10067-013-2423-z

المؤلفون: Murgasova, Lenka, Jurovcik, Michal, Jesina, Pavle, Malinova, Vera, Bloomfield, Marketa, Zeman, Jiri, Magner, Martin

المساهمون: Ministerstvo Zdravotnictví Ceské Republiky, Ministerstvo Školství, Mládeže a Tělovýchovy

المصدر: International Journal of Pediatric Otorhinolaryngology ; volume 135, page 110137 ; ISSN 0165-5876

الاتاحة: http://dx.doi.org/10.1016/j.ijporl.2020.110137
https://api.elsevier.com/content/article/PII:S0165587620302809?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0165587620302809?httpAccept=text/plain

المؤلفون: Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolnikova, Miriam, Malinova, Vera, Insua, Jose, Velten, Christian, Kolb, Stefan

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a96cd052ec32c86c7afa8fdfe28a3969

المؤلفون: Burton, Barbara, Di Rocco, Maja, Enns, Gregory M., Erbe, Richard W., Ezgu, Fatih Suheyl, Feillet, Francois, Ficicioglu, Can, Furuya, Katryn N., Taybert, Joanna, Balwani, Manisha, Baric, Ivo, Bialer, Martin, Burrow, Thomas A., Camarena Grande, Carmen, Coker, Mahmut, Consuelo Sanchez, Alejandra, Deegan, Patrick, Bernardo Guelbert, Norberto, Kane, John, Kostyleva, Maria, Laukaitis, Christina M., Malinova, Vera, Mengel, Eugen, Murphy, Elaine, Neilan, Edward G., Nightingale, Scott, Pastor Rosado, Jose, Peters, Heidi, Rahman, Yusof, Scarpa, Maurizio, Schwab, Karl Otfried, Smolka, Vratislav, Valayannopoulos, Vassili, Wood, Marnie, Zeniya, Mikio, Yang, Yijun, Eckert, Stephen, Rojas-Caro, Sandra, Quinn, Anthony G.

Relation: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Hepatology; https://hdl.handle.net/11454/49441; 60; 1270A

الاتاحة: https://hdl.handle.net/11454/49441

المؤلفون: Balwani, Manisha, Burton, Barbara, Baric, Ivo, Bialer, Martin, Burrow, Thomas A., Camarena Grande, Carmen, Coker, Mahmut, Consuelo Sanchez, Alejandra, Deegan, Patrick, Di Rocco, Maja, Enns, Gregory M., Erbe, Richard W., Ezgu, Fatih Suheyl, Feillet, Francois, Ficicioglu, Can, Furuya, Katryn N., Bernardo Guelbert, Norberto, Kane, John, Kostyleva, Maria, Laukaitis, Christina M., Malinova, Vera, Mengel, Eugen, Murphy, Elaine, Neilan, Edward G., Nightingale, Scott, Pastor Rosado, Jose, Peters, Heidi, Rahman, Yusof, Scarpa, Maurizio, Schwab, Karl Otfried, Smolka, Vratislav, Taybert, Joanna, Valayannopoulos, Vassili, Wood, Marnie, Zeniya, Mikio, Yang, Yijun, Eckert, Stephen, Rojas-Caro, Sandra, Quinn, Anthony G.

المساهمون: Ege Üniversitesi

Relation: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Hepatology; https://hdl.handle.net/11454/49441; 60; 1270A

الاتاحة: https://hdl.handle.net/11454/49441

المؤلفون: Malinová, Věra, Węgrzyn, Grzegorz, Narajczyk, Magdalena

المصدر: JIMD Reports ; JIMD Reports - Case and Research Reports, 2012/2 ; page 21-25 ; ISSN 2192-8304 2192-8312 ; ISBN 9783642280955 9783642280962

الاتاحة: http://dx.doi.org/10.1007/8904_2011_87
http://link.springer.com/content/pdf/10.1007/8904_2011_87

المؤلفون: Bremova, Tatiana, Malinová, Věra, Amraoui, Yasmina, Mengel, Eugen, Reinke, Jörg, Kolníková, Miriam, Strupp, Michael

المصدر: Neurology ; volume 85, issue 16, page 1368-1375 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000002041
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000002041

المؤلفون: Rojas-Caro, Sandra, Whitley, Chester, Valayannopoulos, Vassili, Malinová, Věra, Sharma, Reena, Bourdon, Chris, Boyd, Simeon, Kessler, Bruce, Twelves, Christopher, Eckert, Stephen, Quinn, Anthony G.

المصدر: Molecular Genetics and Metabolism ; volume 114, issue 2, page S99 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2014.12.221
https://api.elsevier.com/content/article/PII:S1096719214006015?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719214006015?httpAccept=text/plain

المؤلفون: Deegan, Patrick, Murphy, Elaine, Rahman, Yusof, EZGÜ, FATİH SÜHEYL, Smolka, Vratislav, Quinn, Anthony G., Rojas-Caro, Sandra, Eckert, Stephen, Yang, Yijun, Balwani, Manisha, Burton, Barbara, Baric, Ivo, Bialer, Martin, Burrow, Thomas A., Camarena Grande, Carmen, ÇOKER, MAHMUT, Consuelo Sanchez, Alejandra, Di Rocco, Maja, Enns, Gregory M., Erbe, Richard W., Zeniya, Mikio, Wood, Marnie, Valayannopoulos, Vassili, Taybert, Joanna, Feillet, Francois, Ficicioglu, Can, Furuya, Katryn N., Bernardo Guelbert, Norberto, Kane, John, Kostyleva, Maria, Laukaitis, Christina M., Malinova, Vera, Mengel, Eugen, Neilan, Edward G., Nightingale, Scott, Pastor Rosado, Jose, Peters, Heidi, Scarpa, Maurizio, Schwab, Karl Otfried

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10046::fc98c8f4c4dd1ce86e9292ed97c0e4f1
https://avesis.gazi.edu.tr/publication/details/47252bbc-bade-46da-b83a-a75fe99520da/oai