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Gaucher Disease
Anthony H. Futerman, Ari Zimran, Anthony H. Futerman, Ari Zimran
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eBook - PDF
Gaucher Disease
Anthony H. Futerman, Ari Zimran, Anthony H. Futerman, Ari Zimran
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About This Book
In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition!Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable proto
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Information
1
CHAPTER
1
Introduction:
Overview
and
Historical
Perspective
Roscoe
O.
Brady
CONTENTS
Original
Descriptions
of
Patients
with
Gaucher
Disease
.........................................
1
Accumulating
Materials
............................................................................................
3
Glucocerebroside
..............................................................................................
3
Glucopsychosine
(glucosylsphingosine)
..........................................................
4
Elucidation
of
the
Enzymatic
Defect
in
Gaucher
Disease
.......................................
5
Diagnostic
Tests
and
Genetic
Counseling
.................................................................
6
Therapy
......................................................................................................................
6
Enzyme
Replacement
.......................................................................................
6
Gene
Therapy
...................................................................................................
7
The
Future
..................................................................................................................
8
Envoi
..........................................................................................................................
8
References
..................................................................................................................
8
ORIGINAL
DESCRIPTIONS
OF
PATIENTS
WITH
GAUCHER
DISEASE
Gaucher
disease
is
named
for
the
French
dermatologist
Philippe
C.E.
Gaucher
who
described
a
23-year-old
female
patient
in
1882
who
had
an
enlarged
spleen
that
he
believed
was
due
to
an
epithelioma.
1
He
noted
the
presence
of
large,
unusual
cells
in
the
patient’s
spleen.
Reports
of
additional
patients
with
similar
presentations
appeared
shortly
thereafter,
2-4
and
the
eponym
“Gaucher’s
disease”
was
applied.
In
addition,
the
term
“Gaucher
cell”
also
became
commonly
used
to
specify
the
char-
acteristic
engorged
cells
in
the
organs
of
such
patients.
Brill
suggested
in
1901
that
Gaucher
disease
was
a
familial
disorder.
5
Involvement
of
the
lymph
nodes,
the
liver,