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Revue de Medecine Interne
Volumn 27, Issue SUPPL. 1, 2006, Pages
Clinical aspects of early-stage neurological forms of Gaucher disease
Author keywords

Perinatal Gaucher disease; Type 2 Gaucher disease; Type 3 Gaucher disease
Indexed keywords

ANASARCA; APNEA; ARTICLE; BIRTH; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ENZYME THERAPY; EYE MOVEMENT CONTROL; FACE DYSMORPHIA; FETUS DEATH; GAUCHER DISEASE; HUMAN; ICHTHYOSIS; LUNG DISEASE; MYOCLONUS EPILEPSY; NEUROLOGIC DISEASE; ORGAN INJURY; PERINATAL PERIOD; PREMATURITY; PSYCHOMOTOR RETARDATION; SUCKING; ADULT; AGE; CLASSIFICATION; COGNITIVE DEFECT; COMPARATIVE STUDY; EPILEPSY; FEMALE; FETUS DISTRESS; GENETICS; GENOTYPE; HOMOZYGOTE; INFANT; MALE; MORTALITY; MUTATION; MYOCLONUS; NEUROLOGIC EXAMINATION; NEWBORN; PREGNANCY;
EID: 33646100079     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/S0248-8663(06)80005-6     Document Type: Article
Times cited : (5)
References (7)
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  • 3
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    • The French Type 2 Gaucher Disease Study Group. Type 2 Gaucher disease: 15 new cases and review of the literature
    • (sous presse)
    • (sous presse). Mignot C., Doummar D., Maire I., and Billette de Villemeur T. The French Type 2 Gaucher Disease Study Group. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev (2005)
    • (2005) Brain Dev
    • Mignot, C.1    Doummar, D.2    Maire, I.3    Billette de Villemeur, T.4
  • 4
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    • Phenotypic continuum in neuronopathic Gaucher disease : an intermediate phenotype between type 2 and type 3
    • Goker-Alpan O., Schiffmann R., Park J.K., Stubblefield B.K., Tayebi N., and Sidransky E. Phenotypic continuum in neuronopathic Gaucher disease : an intermediate phenotype between type 2 and type 3. J Pediatr 143 (2003) 273-276
    • (2003) J Pediatr , vol.143 , pp. 273-276
    • Goker-Alpan, O.1    Schiffmann, R.2    Park, J.K.3    Stubblefield, B.K.4    Tayebi, N.5    Sidransky, E.6
  • 5
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    • Gaucher disease - Norrbottnian type (III). Neuropaediatrie and neurobiological aspects of clinical patterns and treatment
    • Erikson A. Gaucher disease - Norrbottnian type (III). Neuropaediatrie and neurobiological aspects of clinical patterns and treatment. Acta Pâediatr Scand Suppl 326 (1986) 1-42
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    • Erikson, A.1
  • 6
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    • Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation
    • George R., McMahon J., Lytle B., Clark B., and Lichtin A. Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. Clin Genet 59 (2001) 360-363
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    • George, R.1    McMahon, J.2    Lytle, B.3    Clark, B.4    Lichtin, A.5
  • 7
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    • The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease
    • Altarescu G., Hill S., Wiggs E., Jeffries N., Kreps C., Parker C.C., et al. The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J Pediatr 138 (2001) 539-547
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    • Altarescu, G.1    Hill, S.2    Wiggs, E.3    Jeffries, N.4    Kreps, C.5    Parker, C.C.6

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.