Detalhe da pesquisa
1.
EBV-driven lymphoid neoplasms associated with pediatric ALL maintenance therapy.
Blood
; 141(7): 743-755, 2023 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332176
2.
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
Eur J Haematol
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600884
3.
Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease.
Intern Med J
; 54(3): 398-403, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37493453
4.
A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
Proc Natl Acad Sci U S A
; 117(36): 22113-22121, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843346
5.
High-Dose Ambroxol Therapy in Type 1 Gaucher Disease Focusing on Patients with Poor Response to Enzyme Replacement Therapy or Substrate Reduction Therapy.
Int J Mol Sci
; 24(7)2023 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047707
6.
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease.
Int J Mol Sci
; 24(4)2023 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835356
7.
[PERIOPERATIVE MANAGEMENT OF AN ADOLESCENT GIRL WITH SEVERE FACTOR XI DEFICIENCY AND INHIBITORS].
Harefuah
; 162(1): 42-46, 2023 Jan.
Artigo
em Hebraico
| MEDLINE | ID: mdl-36714941
8.
Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry.
Am J Hematol
; 97(10): 1337-1347, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054609
9.
Pediatric severe factor XI deficiency: A multicenter study.
Pediatr Blood Cancer
; 69(3): e29545, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34957695
10.
Enzyme replacement therapy leading to improvement in myeloma indices in a patient with concomitant Gaucher disease.
Intern Med J
; 52(5): 872-875, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35538014
11.
Brain-Derived Neurotrophic Factor (BDNF) Is Associated with Platelet Activity and Bleeding Tendency in Patients with Gaucher Disease.
Int J Mol Sci
; 23(22)2022 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430458
12.
A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk.
Int J Mol Sci
; 23(20)2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36293067
13.
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Int J Mol Sci
; 23(3)2022 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163551
14.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Blood
; 134(23): 2082-2091, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064749
15.
Risk of postpartum hemorrhage in multiparous women with Gaucher disease: A call for reconsidering enzyme replacement therapy in all pregnant patients.
J Inherit Metab Dis
; 44(5): 1165-1173, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33829536
16.
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
Am J Hematol
; 96(5): 545-551, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606887
17.
The Effect of Nutritional Therapy on Bone Mineral Density and Bone Metabolism in Pediatric Crohn Disease.
J Pediatr Gastroenterol Nutr
; 72(6): 877-882, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33587407
18.
Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations.
Int J Mol Sci
; 22(14)2021 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299318
19.
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Haematologica
; 105(7): 1825-1834, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31558676
20.
The definition of neuronopathic Gaucher disease.
J Inherit Metab Dis
; 43(5): 1056-1059, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242941