Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease

[1] The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease [J]. JOURNAL OF PEDIATRICS, 2001, 138 (04) : 539 - 547

[2] Beutler E., 2001, METABOLIC MOL BASES, V3, P3635

[3] Perinatal lethal Gaucher disease: A distinct phenotype along the neuronopathic continuum [J]. FETAL AND PEDIATRIC PATHOLOGY, 2005, 24 (4-5) : 205 - 222

[4] Frederickson DS, 1972, METABOLIC BASIS INHE, P730

[5] CONSEQUENCES OF BETA-GLUCOCEREBROSIDASE DEFICIENCY IN EPIDERMIS - ULTRASTRUCTURE AND PERMEABILITY BARRIER ALTERATIONS IN GAUCHER DISEASE [J]. JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (04) : 1756 - 1764

[6] Knudson AG., 1962, GENETICS SPHINGOLIPI

[7] Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) : 1777 - 1786

[8] Prows CA, 1997, AM J MED GENET, V71, P16, DOI 10.1002/(SICI)1096-8628(19970711)71:1<16::AID-AJMG3>3.3.CO

[9] 2-U

[10] Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus [J]. MOLECULAR GENETICS AND METABOLISM, 1998, 63 (04) : 281 - 288

[1] The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease [J]. JOURNAL OF PEDIATRICS, 2001, 138 (04) : 539 - 547

[2] Beutler E., 2001, METABOLIC MOL BASES, V3, P3635

[3] Perinatal lethal Gaucher disease: A distinct phenotype along the neuronopathic continuum [J]. FETAL AND PEDIATRIC PATHOLOGY, 2005, 24 (4-5) : 205 - 222

[4] Frederickson DS, 1972, METABOLIC BASIS INHE, P730

[5] CONSEQUENCES OF BETA-GLUCOCEREBROSIDASE DEFICIENCY IN EPIDERMIS - ULTRASTRUCTURE AND PERMEABILITY BARRIER ALTERATIONS IN GAUCHER DISEASE [J]. JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (04) : 1756 - 1764

[6] Knudson AG., 1962, GENETICS SPHINGOLIPI

[7] Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) : 1777 - 1786

[8] Prows CA, 1997, AM J MED GENET, V71, P16, DOI 10.1002/(SICI)1096-8628(19970711)71:1<16::AID-AJMG3>3.3.CO

[9] 2-U

[10] Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus [J]. MOLECULAR GENETICS AND METABOLISM, 1998, 63 (04) : 281 - 288