Literature DB >> 12845529

Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy--unsuccessful treatment of the neurological abnormality in type 2 Gaucher disease.

Makoto Migita1,2, Hisamitsu Hamada1, Juri Fujimura1, Atsushi Watanabe2, Takashi Shimada2, Yoshitaka Fukunaga1.   

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Year:  2003        PMID： 12845529     DOI： 10.1007/s00431-001-0859-7

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  4 in total

1.  Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease.

Authors:  N W Barton; R O Brady; J M Dambrosia; A M Di Bisceglie; S H Doppelt; S C Hill; H J Mankin; G J Murray; R I Parker; C E Argoff
Journal:  N Engl J Med       Date:  1991-05-23       Impact factor: 91.245

2.  Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses.

Authors:  Y A Hannun; R M Bell
Journal:  Science       Date:  1987-02-06       Impact factor: 47.728

Review 3.  The role of neurogenetics in Gaucher disease.

Authors:  R O Brady; N W Barton; G A Grabowski
Journal:  Arch Neurol       Date:  1993-11

4.  Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease.

Authors:  O Ringdén; C G Groth; A Erikson; L Bäckman; S Granqvist; J E Månsson; L Svennerholm
Journal:  Transplantation       Date:  1988-07       Impact factor: 4.939
  4 in total
  4 in total

1.  Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions.

Authors:  Hagit N Baris; Annick Raas-Rothschild; Ben-Zion Garty; Ruth Tor; Sarah Klontz; Nahid Tayebi; Ellen Sidransky; Ian J Cohen
Journal:  Blood Cells Mol Dis       Date:  2011-09-01       Impact factor: 3.039

Review 2.  Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

Authors:  N Gupta; I M Oppenheim; E F Kauvar; N Tayebi; E Sidransky
Journal:  Blood Cells Mol Dis       Date:  2010-09-28       Impact factor: 3.039

3.  A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.

Authors:  Sebile Kılavuz; Murat Basaranoglu; Serdar Epcacan; Derya Bako; Arife Ozer; Yasemin Nuran Donmez; Emine Ipek Ceylan; Ajlan Tukun; Serdar Ceylaner; Hadi Geylani; Halise Neslihan Onenli Mungan
Journal:  Metab Brain Dis       Date:  2022-03-07       Impact factor: 3.584

4.  Bridging molecular genetics and biomarkers in lewy body and related disorders.

Authors:  Gilbert J Ho; Willie Liang; Masaaki Waragai; Kazunari Sekiyama; Eliezer Masliah; Makoto Hashimoto
Journal:  Int J Alzheimers Dis       Date:  2011-07-03
  4 in total

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