| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aberrant bone marrow vascularization patterns in untreated patients with Gaucher disease type 1
|
Klimkowska, Monika
|
|
2018
|
68 |
C |
p. 54-59
|
artikel
|
| 2 |
A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration
|
Peterschmitt, M. Judith
|
|
2018
|
68 |
C |
p. 185-191
|
artikel
|
| 3 |
Appendiceal involvement in a patient with Gaucher disease
|
Kocic, Marija
|
|
2018
|
68 |
C |
p. 109-111
|
artikel
|
| 4 |
A rare form of Gaucher disease resulting from saposin C deficiency
|
Kang, Lulu
|
|
2018
|
68 |
C |
p. 60-65
|
artikel
|
| 5 |
Are transient and shear wave elastography useful tools in Gaucher disease?
|
Webb, Muriel
|
|
2018
|
68 |
C |
p. 143-147
|
artikel
|
| 6 |
Assessment of the liver and spleen in children with Gaucher disease type I with diffusion-weighted MR imaging
|
Razek, Ahmed Abdel Khalek Abdel
|
|
2018
|
68 |
C |
p. 139-142
|
artikel
|
| 7 |
Bone mineral density and lean muscle mass characteristics in children with Gaucher disease treated with enzyme replacement therapy or untreated
|
Dar, Liron
|
|
2018
|
68 |
C |
p. 135-138
|
artikel
|
| 8 |
Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy
|
Weinreb, Neal J
|
|
2018
|
68 |
C |
p. 211-217
|
artikel
|
| 9 |
Children with type 1 Gaucher disease: Changing profiles in the 21st century
|
Elstein, Deborah
|
|
2018
|
68 |
C |
p. 93-96
|
artikel
|
| 10 |
Cholangiocarcinoma occurring in a patient with type 1 Gaucher disease treated with velaglucerase alfa enzyme replacement therapy: First case report
|
Holubar, Jan
|
|
2018
|
68 |
C |
p. 112-114
|
artikel
|
| 11 |
Classifying the additional morbidities of Gaucher disease
|
Langeveld, Mirjam
|
|
2018
|
68 |
C |
p. 209-210
|
artikel
|
| 12 |
Clinical and molecular characteristics of patients with Gaucher disease in Southern China
|
Feng, Yuyu
|
|
2018
|
68 |
C |
p. 30-34
|
artikel
|
| 13 |
Combined beta-glucosylceramide and ambroxol hydrochloride in patients with Gaucher related Parkinson disease: From clinical observations to drug development
|
Ishay, Yuval
|
|
2018
|
68 |
C |
p. 117-120
|
artikel
|
| 14 |
Could enzyme replacement therapy promote immune tolerance in Gaucher disease type 1?
|
Matta, Marina Cadena
|
|
2018
|
68 |
C |
p. 200-202
|
artikel
|
| 15 |
Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model
|
Bellgard, Matthew I.
|
|
2018
|
68 |
C |
p. 232-238
|
artikel
|
| 16 |
Editorial Board
|
|
|
2018
|
68 |
C |
p. IFC
|
artikel
|
| 17 |
Energy balance, glucose and lipid metabolism, cardiovascular risk and liver disease burden in adult patients with type 1 Gaucher disease
|
Nascimbeni, Fabio
|
|
2018
|
68 |
C |
p. 74-80
|
artikel
|
| 18 |
Enzyme replacement therapy reverses B lymphocyte and dendritic cell dysregulations in patients with Gaucher Disease
|
Limgala, Renuka Pudi
|
|
2018
|
68 |
C |
p. 81-85
|
artikel
|
| 19 |
Ferritinemia and serum inflammatory cytokines in Swedish adults with Gaucher disease type 1
|
Lorenz, Fryderyk
|
|
2018
|
68 |
C |
p. 35-42
|
artikel
|
| 20 |
Gaucheromas: When macrophages promote tumor formation and dissemination
|
Ivanova, Margarita
|
|
2018
|
68 |
C |
p. 100-105
|
artikel
|
| 21 |
Growth and final height of children with Gaucher disease: A 15-year follow-up at an Israeli Gaucher center
|
Mendelsohn, Espen
|
|
2018
|
68 |
C |
p. 97-99
|
artikel
|
| 22 |
Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy
|
Tezuka, Yuko
|
|
2018
|
68 |
C |
p. 194-199
|
artikel
|
| 23 |
In memoriam: Roscoe Owen Brady 1923–2016
|
Goldin, Ehud
|
|
2018
|
68 |
C |
p. 3
|
artikel
|
| 24 |
Intraobserver and interobserver variability of the bone marrow burden (BMB) score for the assessment of disease severity in Gaucher disease. Possible impact of reporting experience
|
Lai, Jeffrey K.C.
|
|
2018
|
68 |
C |
p. 121-125
|
artikel
|
| 25 |
Liver involvement in Gaucher disease – Review and clinical approach
|
Adar, Tomer
|
|
2018
|
68 |
C |
p. 66-73
|
artikel
|
| 26 |
Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase
|
Zimran, Ari
|
|
2018
|
68 |
C |
p. 163-172
|
artikel
|
| 27 |
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease
|
Biegstraaten, M.
|
|
2018
|
68 |
C |
p. 203-208
|
artikel
|
| 28 |
Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients
|
Machaczka, Maciej
|
|
2018
|
68 |
C |
p. 86-92
|
artikel
|
| 29 |
Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy
|
Canda, Ebru
|
|
2018
|
68 |
C |
p. 180-184
|
artikel
|
| 30 |
Preface to the special issue on Gaucher disease 2017
|
Zimran, Ari
|
|
2018
|
68 |
C |
p. 1-2
|
artikel
|
| 31 |
Recent advances and future challenges in Gaucher disease
|
Zimran, Ari
|
|
2018
|
68 |
C |
p. 9-13
|
artikel
|
| 32 |
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey
|
Lau, Heather
|
|
2018
|
68 |
C |
p. 226-231
|
artikel
|
| 33 |
Roscoe O. Brady: Physician whose pioneering discoveries in lipid biochemistry revolutionized treatment and understanding of lysosomal diseases
|
Aerts, Johannes M.
|
|
2018
|
68 |
C |
p. 4-8
|
artikel
|
| 34 |
Should eliglustat be first line therapy for patients with type 1 Gaucher disease? Definitions of safety and efficacy
|
Zimran, Ari
|
|
2018
|
68 |
C |
p. 14-16
|
artikel
|
| 35 |
Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density
|
Baldini, M.
|
|
2018
|
68 |
C |
p. 148-152
|
artikel
|
| 36 |
Taliglucerase alfa in Gaucher disease: Description of a Brazilian experience
|
Cravo, R.
|
|
2018
|
68 |
C |
p. 160-162
|
artikel
|
| 37 |
The additive effect on the antiepileptic treatment of ambroxol in type 3 Gaucher patient. The early observation
|
Pawlinski, Lukasz
|
|
2018
|
68 |
C |
p. 192-193
|
artikel
|
| 38 |
The role of high density lipoprotein in Type 1 Gaucher disease
|
Watad, Salmas
|
|
2018
|
68 |
C |
p. 43-46
|
artikel
|
| 39 |
The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature
|
Madeo, Annalisa
|
|
2018
|
68 |
C |
p. 106-108
|
artikel
|
| 40 |
The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises
|
Andrade-Campos, Marcio
|
|
2018
|
68 |
C |
p. 126-134
|
artikel
|
| 41 |
Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials
|
Zimran, Ari
|
|
2018
|
68 |
C |
p. 153-159
|
artikel
|
| 42 |
Treatment patterns from 647 patients with Gaucher disease: An analysis from the Gaucher Outcome Survey
|
Deegan, P.
|
|
2018
|
68 |
C |
p. 218-225
|
artikel
|
| 43 |
Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations
|
Arkadir, David
|
|
2018
|
68 |
C |
p. 115-116
|
artikel
|
| 44 |
Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project
|
Giraldo, Pilar
|
|
2018
|
68 |
C |
p. 173-179
|
artikel
|
| 45 |
UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease
|
Braunstein, Hila
|
|
2018
|
68 |
C |
p. 21-29
|
artikel
|
| 46 |
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients
|
Basgalupp, Suelen P.
|
|
2018
|
68 |
C |
p. 17-20
|
artikel
|
| 47 |
Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease
|
Murugesan, Vagishwari
|
|
2018
|
68 |
C |
p. 47-53
|
artikel
|
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