A questionnaire study for 128 patients with Gaucher disease

Gaucher disease is an uncommon autosomal recessive disorder characterized by lysosomal storage of glucosyl ceramide, a material released during cell degradation. Patients with Gaucher disease often have significant hematologic, bone structural, and visceral problems which sometimes greatly affect th...

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Veröffentlicht in:	Clinical genetics 2006-03, Vol.69 (3), p.209-217
Hauptverfasser:	Mankin, HJ, Trahan, CA, Barnett, NA, Laughead, J, Bove, CM, Pastores, GM
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Biological and medical sciences Bone Diseases - etiology cardiac issues Child Child, Preschool Errors of metabolism Female Gaucher disease Gaucher Disease - complications Gaucher Disease - genetics Gaucher Disease - psychology Gaucher Disease - therapy General aspects. Genetic counseling Heart Diseases - etiology Hematologic Diseases - etiology Humans Joint Diseases - etiology Lipids (lysosomal enzyme disorders, storage diseases) Lung Diseases - etiology Male Medical genetics Medical sciences Metabolic diseases Middle Aged musculoskeletal neuropsychologic Pregnancy Pregnancy Complications - etiology Surveys and Questionnaires United States visceral
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