Abnormalities in the cerebral cortex in Gaucher disease type 1: Findings from the ENIGMA storage disease working group

被引：0

作者：

Karkashadze, George ^{[1
]}

Namazova-Baranova, Leyla ^{[1
]}

Belyaev, Mikhail ^{[2
]}

Anikin, Anatoly ^{[3
]}

Gundobina, Olga ^{[3
]}

Vashakmadze, Nato ^{[1
]}

Karkashadze, Magda ^{[3
]}

Kapilushniy, Dmitry ^{[3
]}

Gogberashvili, Tina ^{[1
]}

Movsisyan, Goar ^{[3
]}

Ermolina, Julia ^{[3
]}

Konstsantinidi, Tatiana ^{[1
]}

Solovieva, Anastasia ^{[4
]}

Firumyants, Alexey ^{[4
]}

Khrameeva, Ekaterina ^{[2
]}

Gutman, Boris ^{[5
]}

Zelman, Vladimir ^{[5
]}

Thompson, Paul ^{[5
]}

Baranov, Alexander ^{[1
]}

机构：

[1] Sci Res Inst Pediat & Child Hlth CCH RAoS, Moscow, Russia

[2] Skolkovo Inst Sci & Technol, Moscow, Russia

[3] Natl Med Res Ctr Childrens Hlth MoH, Moscow, Russia

[4] Working Grp ENIGMA Storage Dis, Moscow, Russia

[5] Working Grp ENIGMA Storage Dis, Los Angeles, CA USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2020年 / 129卷 / 02期

关键词：

D O I：

10.1016/j.ymgme.2019.11.206

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

197

引用

页码：S84 / S84

页数：1

共 50 条

[1] Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease
Biegstraaten, M.
Cox, T. M.
Belmatoug, N.
Berger, M. G.
Collin-Histed, T.
Vom Dahl, S.
Di Rocco, M.
Fraga, C.
Giona, F.
Giraldo, P.
Hasanhodzic, M.
Hughes, D. A.
Iversen, P. O.
Kiewiet, A. I.
Lukina, E.
Machaczka, M.
Marinakis, T.
Mengel, E.
Pastores, G. M.
Ploeckinger, U.
Rosenbaum, H.
Serratrice, C.
Symeonidis, A.
Szer, J.
Timmerman, J.
Tylki-Szymanska, A.
Hubshman, M. Weisz
Zafeiriou, D. I.
Zimran, A. a
Hollak, C. E. M.
BLOOD CELLS MOLECULES AND DISEASES, 2018, 68 : 203 - 208
[2] Coagulation abnormalities in type 1 Gaucher disease in children
Deghady, Akram
Marzouk, Iman
El-Shayeb, Ayman
Wali, Yasseer
PEDIATRIC HEMATOLOGY AND ONCOLOGY, 2006, 23 (05) : 411 - 417
[3] Oculomotor findings and their correlation with clinical abnormalities in Gaucher disease type 3
Bremova, T.
Schiffmann, R.
Patterson, M.
Belmatoug, N.
Bardins, S.
Malinova, V.
Mengel, E.
Reinke, J.
Strupp, M.
EUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 : 453 - 454
[4] THE SUBCLINICAL NEUROLOGICAL FINDINGS IN TYPE 1 GAUCHER DISEASE
Kucukcongar, A.
Aydin, K.
Ezgu, F. S.
Kasapkara, C. S.
Tumer, L.
Hasanoglu, A.
JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S99 - S99
[5] Guidelines for the restart of imiglucerase in patients with Gaucher disease: Recommendations from the European Working Group on Gaucher disease
Hollak, Carla E. M.
Aerts, Johannes M. F. G.
Belmatoug, Nadia
Bembi, Bruno
Bodamer, Olaf
Cappellini, Domenica
Collin-Histed, Tanya
Cox, Timothy
Deegan, Patrick
Giraldo, Pilar
Hughes, Derralynn
Lukina, Elena
Manuel, Jeremy
Michelakakis, Helen
Di Rocco, Maja
Vellodi, Ashok
Zimran, Ari
BLOOD CELLS MOLECULES AND DISEASES, 2010, 44 (02) : 86 - 87
[6] ABNORMALITIES IN LIPOPROTEIN METABOLISM IN GAUCHER TYPE-1 DISEASE
LE, NA
GIBSON, JC
RUBINSTEIN, A
GRABOWSKI, GA
GINSBERG, HN
METABOLISM-CLINICAL AND EXPERIMENTAL, 1988, 37 (03): : 240 - 245
[7] Widespread Cortical Thinning in Parkinson's Disease: Findings from the ENIGMA-Parkinson's Disease Working Group
Gutman, Boris
Bright, Joanna
Rummel, Christian
Rocha, Cristiane S.
Debove, Ines
Yasuda, Clarissa
Guimaraes, Rachel Paes
Bergo, Felipe
D'Abreu, Anelyssa
Poston, Kathleen
Wiest, Roland
Cendes, Fernando
Thompson, Paul M.
van der Werf, Ysbrand
NEUROLOGY, 2018, 90
[8] GAUCHER DISEASE - NORRBOTTNIAN TYPE OCULAR ABNORMALITIES
ERIKSON, A
WAHLBERG, I
ACTA OPHTHALMOLOGICA, 1985, 63 (02) : 221 - 225
[9] Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease
Sidransky, E
Fartasch, M
Lee, RE
Metlay, LA
Abella, S
Zimran, A
Gao, W
Elias, PM
Ginns, EI
Holleran, WM
PEDIATRIC RESEARCH, 1996, 39 (01) : 134 - 141
[10] HEMATOLOGICAL FINDINGS IN THE NORRBOTTNIAN TYPE OF GAUCHER DISEASE
TIBBLIN, E
DREBORG, S
ERIKSON, A
HAKANSSON, G
SVENNERHOLM, L
EUROPEAN JOURNAL OF PEDIATRICS, 1982, 139 (03) : 187 - 191

← 1 2 3 4 5 →