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Bone marrow transplantation for Sanfilippo disease type B
Author(s) -
Vellodi A.,
Young E.,
New M.,
PotMees C.,
HughJones K.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800232
Subject(s) - bone marrow transplantation , human genetics , medicine , transplantation , disease , pathology , biology , genetics , gene
Summary Allogeneic bone marrow transplantation was performed on twins with Sanfilippo B disease. They were the first two patients with this disorder to undergo the procedure. There was definite evidence of engraftment as shown by conversion to donor blood group antigen and tissue type, and increased leukocyte α‐glucosaminidase activity. Nine years post transplant, neither twin is as handicapped as her untreated brothers were at the same age, although in one twin hyperactivity and behavioural problems, characteristic of the disorder, are present. Details of the twins' intellectual development and growth, their α‐glucosaminidase activity and urinary glycosaminoglycan excretion are reported.