Literature DB >> 19765407

Recommendations on diagnosis, treatment, and monitoring for Gaucher disease.

Ana Maria Martins1, Eugenia Ribeiro Valadares, Gilda Porta, Janice Coelho, José Semionato Filho, Mara Albonei Dudeque Pianovski, Marcelo Soares Kerstenetzky, Maria de Fátima Pombo Montoril, Paulo Cesar Aranda, Ricardo Flores Pires, Ronald Moura Vale Mota, Teresa Cristina Bortolheiro.   

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Year:  2009        PMID： 19765407     DOI： 10.1016/j.jpeds.2009.07.004

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  10 in total

1.  Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.

Authors:  Talita E R Adelino; Gustavo G Martins; Aretta A A Gomes; Adriana A Torres; Daniel A S Silva; Vinícius D O Xavier; João Paulo O Guimarães; Sérgio S S Araújo; Rachel A F Fernandes; Maria Christina L A Oliveira; Ana Lúcia B Godard; Eugênia R Valadares
Journal:  JIMD Rep       Date:  2012-10-13

2.  Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum.

Authors:  Suresh Pandi; Vijay Chandran; Anirudda Deshpande; Annamma Kurien
Journal:  BMJ Case Rep       Date:  2014-05-08

Review 3.  Eliglustat: A Review in Gaucher Disease Type 1.

Authors:  Lesley J Scott
Journal:  Drugs       Date:  2015-09       Impact factor: 9.546

4.  Evoked potentials and neurocognitive functions in pediatric Egyptian Gaucher patients on enzyme replacement therapy: a single center experience.

Authors:  Azza Abdel Gawad Tantawy; Eman Mounir Sherif; Amira Abdel Moneam Adly; Sahar Hassanine; Amina Hafez Awad
Journal:  J Inherit Metab Dis       Date:  2013-03-19       Impact factor: 4.982

5.  Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.

Authors:  Ju-Young Lee; Beom Hee Lee; Gu-Hwan Kim; Chang-Woo Jung; Jin Lee; Jin-Ho Choi; Han-Wook Yoo
Journal:  Korean J Pediatr       Date:  2012-02-14

6.  A new framework for evaluating the health impacts of treatment for Gaucher disease type 1.

Authors:  Michael L Ganz; Sean Stern; Alex Ward; Luba Nalysnyk; Martin Selzer; Alaa Hamed; Neal Weinreb
Journal:  Orphanet J Rare Dis       Date:  2017-02-20       Impact factor: 4.123

7.  Down-regulation of Regulatory T-cells in Children With Gaucher Disease Under Enzyme Replacement Therapy.

Authors:  Asmaa M Zahran; Khaled Saad; Mohamed Gamil Abo-Elela; Esraa M Eloseily; Eman F Gad; Amir M Abo Elgheet; Rasha R Mahmmoud; Mervat A M Youssef; Mona M Abdelmeguid; Bahaa Hawary; Sanaa F Darwish; Amira Elhoufey; Khalid I Elsayh
Journal:  Clin Appl Thromb Hemost       Date:  2019 Jan-Dec       Impact factor: 2.389

8.  Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience.

Authors:  Ekram Fateen; Zeinab Y Abdallah
Journal:  Heliyon       Date:  2019-11-01

Review 9.  Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.

Authors:  Lunawati L Bennett; Kelsey Turcotte
Journal:  Drug Des Devel Ther       Date:  2015-08-18       Impact factor: 4.162

10.  A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.

Authors:  Lin-Yu Liu; Fei Liu; Si-Chen Du; Sha-Yi Jiang; Hui-Jun Wang; Jin Zhang; Wei Wang; Duan Ma
Journal:  Chin Med J (Engl)       Date:  2016-05-05       Impact factor: 2.628
  10 in total

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