A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades

被引：0

作者：

Susanne Hopf

Norbert Pfeiffer

Matthias Liesenfeld

Karl-Eugen Mengel

Julia B. Hennermann

Irene Schmidtmann

Susanne Pitz

机构：

[1] University Medical Center Mainz,Department of Ophthalmology

[2] Clinic for Anaesthesia,Villa Metabolica, Center for Pediatric and Adolescent Medicine

[3] Surgical Intensive Care,Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI)

[4] Emergency Medicine and Pain Therapy,Orbital Center, Ophthalmic Clinic

[5] Klinikum Frankfurt Höchst,undefined

[6] University Medical Center Mainz,undefined

[7] University Medical Center Mainz,undefined

[8] Bürgerhospital Frankfurt,undefined

来源：

Orphanet Journal of Rare Diseases | / 14卷

关键词：

Saccadometry; Video-oculography; Saccades; Gaucher’s disease; Gaucher disease type III; Retina; Vitreous opacity; Ophthalmology; Neuro-ophthalmology; Lysosomal storage disease;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 23 条

[1] A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades
Hopf, Susanne
Pfeiffer, Norbert
Liesenfeld, Matthias
Mengel, Karl-Eugen
Hennermann, Julia B.
Schmidtmann, Irene
Pitz, Susanne
ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (01)
[2] Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)
Lazea, Cecilia
Bucerzan, Simona
Al-Khzouz, Camelia
Zimmermann, Anca
Vesa, Stefan Cristian
Nascu, Ioana
Cret, Victoria
Crisan, Mirela
Asavoaie, Carmen
Miclea, Diana
Grigorescu-Sido, Paula
DIAGNOSTICS, 2021, 11 (06)
[3] A Comprehensive Study of Bone Manifestations in Adult Patients with Gaucher Disease type 1
Oliveri, Beatriz
Gonzalez, Diana
Quiroga, Felisa
Silva, Claudio
Rozenfeld, Paula
Lis, Camilo
Riemersma, Omar
Kot, Martin
JOURNAL OF BONE AND MINERAL RESEARCH, 2018, 33 : 299 - 299
[4] Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients
Suwannarat, P.
Keeratichamroen, S.
Wattanasirichaigoon, D.
Ngiwsara, L.
Cairns, J. R. K.
Svasti, J.
Visudtibhan, A.
Pangkanon, S.
BLOOD CELLS MOLECULES AND DISEASES, 2007, 39 (03) : 348 - 352
[5] A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina
Beatriz Oliveri
Diana González
Felisa Quiroga
Claudio Silva
Paula Rozenfeld
Calcified Tissue International, 2019, 104 : 650 - 657
[6] A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina
Oliveri, Beatriz
Gonzalez, Diana
Quiroga, Felisa
Silva, Claudio
Rozenfeld, Paula
CALCIFIED TISSUE INTERNATIONAL, 2019, 104 (06) : 650 - 657
[7] Clinical and genetic study of Japanese patients with type 3 Gaucher disease
Tajima, Asako
Yokoi, Takayuki
Ariga, Masamichi
Ito, Takeru
Kaneshiro, Eiko
Eto, Yoshikatsu
Ida, Hiroyuki
MOLECULAR GENETICS AND METABOLISM, 2009, 97 (04) : 272 - 277
[8] Osteopenia in Egyptian Gaucher disease type 3 patients: An 11 year prospective study
Abdelwahab, Magy
Kaplan, Paige
MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S15 - S15
[9] Descriptive study of patients with Gaucher disease type 3 in Spain and clinical response to different therapies
Giraldo, Pilar
Stanescu, Sinziana
Correcher Medina, Patricia
Camprodon Gomez, Maria
del Castillo, Francisco J.
Arto-Millan, Luis
Belanger, Amaya
Diez Langhetee, Lydia
Garcia Campos, Oscar
Perez-Moreno, Jimena
Rubio, Barbara
Visa-Rene, Nuria
MOLECULAR GENETICS AND METABOLISM, 2024, 141 (02)
[10] Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades
Amal El-Beshlawy
Khaled Abdel-Azim
Amina Abdel-Salam
Yasmeen M. M. Selim
Fadwa Said
Nadine A. Gebril
Ekram Fateen
Pramod Mistry
Journal of Rare Diseases, 2 (1):

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