1 al acid lipase deficiency, and five types of
mucopolysaccharidosis.
2 Deficiency of ARSG leads to a new type of
mucopolysaccharidosis,
as described in a mouse model.
3 We treated 10 patients with
mucopolysaccharidosis I (age, 5 to 22 years) with recomb
4 rapy (ERT) for the lysosomal storage disease
mucopolysaccharidosis I (MPS I) involves i.v. injection
5 Mucopolysaccharidosis I (MPS I) is an inherited metaboli
6 ny of dogs with the genetic storage disease,
mucopolysaccharidosis I (MPS-I).
7 ular tissues were obtained from 58 dogs with
mucopolysaccharidosis I and four unaffected controls.
8 Mucopolysaccharidosis I Hurler (MPSI-H) is a pediatric l
9 Mucopolysaccharidosis I is a lysosomal storage disease c
10 In patients with
mucopolysaccharidosis I, treatment with recombinant huma
11 nine model of the lysosomal storage disorder
mucopolysaccharidosis I.
12 (IdS) activity for the neonatal detection of
mucopolysaccharidosis II (MPS-II, Hunter Syndrome).
13 Sanfilippo syndrome type B (
mucopolysaccharidosis III B) is a rare autosomal recessi
14 Sanfilippo syndrome type B (
mucopolysaccharidosis III B, MPS III B) is an autosomal
15 of the disease we generated a mouse model of
mucopolysaccharidosis III type C by germline inactivatio
16 progressive neurological paediatric disease
mucopolysaccharidosis III type C is caused by mutations
17 the neurons and neuronal loss explaining why
mucopolysaccharidosis III type C manifests primarily as
18 Mucopolysaccharidosis IIIA or Sanfilippo disease type A
19 Sanfilippo syndrome Type B or
Mucopolysaccharidosis IIIB (MPS IIIB) is a neurodegenera
20 e description of such symptoms in parents of
mucopolysaccharidosis IIIB cases.
21 Alpha-N-acetylglucosaminidase deficiency (
mucopolysaccharidosis IIIB, MPS IIIB) and alpha-l-iduron
22 Our data delineating the phenotype of
mucopolysaccharidosis IIIE in a mouse KO model should he
23 patients with the lysosomal storage disease
mucopolysaccharidosis IV A (also known as MPS IV A and M
24 Mucopolysaccharidosis IVA (MPS IVA) is an autosomal rece
25 Mucopolysaccharidosis IVA (MPS IVA) is an autosomal rece
26 Mucopolysaccharidosis IVA is an autosomal recessive diso
27 re key reporters for profiling the burden of
mucopolysaccharidosis (
MPS) disease at baseline and duri
28 The lysosomal storage pathology in
Mucopolysaccharidosis (
MPS) IIIB manifests in cells of v
29 Sanfilippo syndrome type B, or
mucopolysaccharidosis (
MPS) IIIB, is an autosomal recess
30 d therapeutic evaluation in a mouse model of
mucopolysaccharidosis (
MPS) type I, one of the most comm
31 ltisystem progressive degenerative syndrome,
mucopolysaccharidosis (
MPS) type VII (Sly disease), whic
32 The
mucopolysaccharidosis (
MPS) type VII mouse was originall
33 Mucopolysaccharidosis (
MPS) type VII patients lack funct
34 associated with numerous diseases, including
mucopolysaccharidosis (
MPS) type VII.
35 storage in an immunotolerant model of murine
mucopolysaccharidosis (
MPS) type VII.
36 Mucopolysaccharidosis (
MPS) type-IH is a lysosomal stora
37 Mice with the lysosomal storage disease
mucopolysaccharidosis (
MPS) VII, caused by a deficiency
38 age begins in prenatal life in patients with
mucopolysaccharidosis (
MPS).
39 asts, and corrected the disease phenotype of
mucopolysaccharidosis patient fibroblasts in vitro.
40 The
mucopolysaccharidosis phenotype is not seen in the Tay-S
41 n has significantly extended the lifespan of
mucopolysaccharidosis type 1 (MPS1) patients, over 95% m
42 Mucopolysaccharidosis type I (i.e., Hurler, Hurler-Schei
43 Mucopolysaccharidosis type I (MPS I) is one of the most
44 Patients with
mucopolysaccharidosis type I (MPS I), a genetic deficien
45 (IDUA), which is deficient in patients with
mucopolysaccharidosis type I (MPS I).
46 lastoid cell line derived from patients with
mucopolysaccharidosis type I (MPS I).
47 Mucopolysaccharidosis type I (MPS IH; Hurler syndrome) i
48 We tested this concept in
mucopolysaccharidosis type I (MPS IH; Hurler syndrome),
49 Mucopolysaccharidosis type I (MPS-I) is a progressive mu
50 ldren with severe phenotype Hurler syndrome (
mucopolysaccharidosis type I [MPS I]).
51 Hurler's syndrome (the most severe form of
mucopolysaccharidosis type I) causes progressive deterio
52 pha-L-iduronidase, the corrective enzyme for
Mucopolysaccharidosis type I, were produced using a toba
53 Mucopolysaccharidosis type I-Hurler syndrome (MPS-IH) is
54 allogeneic transplantation of children with
mucopolysaccharidosis type I-Hurler syndrome (MPS-IH), a
55 lysaccharidoses and particularly features of
mucopolysaccharidosis type III (Sanfilippo syndrome).
56 Sanfilippo disease (
mucopolysaccharidosis type III [MPS III]) is a rare neur
57 Compared with the natural history of
mucopolysaccharidosis type III syndromes, neurocognitive
58 Mucopolysaccharidosis type IIIA (MPS IIIA) is an autosom
59 Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo sy
60 Mucopolysaccharidosis type IIIB syndrome (also known as
61 mann-Pick disease type A, Sanfilippo type B (
mucopolysaccharidosis type IIIB, MPSIIIB), and Tay-Sachs
62 Mucopolysaccharidosis type VI (MPS VI) is the lysosomal
63 embranous nephropathy (MN) in a patient with
mucopolysaccharidosis type VI caused by aryl sulfatase B
64 we introduced the MR-null mutation onto the
mucopolysaccharidosis type VII (MPS VII) background and
65 thological improvements in a murine model of
mucopolysaccharidosis type VII (MPS VII) caused by beta-
66 Mucopolysaccharidosis type VII (MPS VII) is an inherited
67 delivery of enzymes to lysosomes in a murine
mucopolysaccharidosis type VII (MPS VII) model.
68 ith or without the lysosomal storage disease
mucopolysaccharidosis type VII (MPS VII) show high morbi
69 The severity of human
mucopolysaccharidosis type VII (MPS VII), or Sly syndrom
70 rrow in vitro into syngeneic recipients with
mucopolysaccharidosis type VII (MPS VII).
71 emonstrate this concept in a murine model of
mucopolysaccharidosis type VII (MPS VII).
72 iatum of adult beta-glucuronidase deficient [
mucopolysaccharidosis type VII (MPS VII)] mice, an anima
73 Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) i
74 Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) i
75 he beta-glucuronidase (GUSB) mutation of the
mucopolysaccharidosis type VII (MPSVII) mouse was backcr
76 The mice, a model of
mucopolysaccharidosis type VII (MPSVII, Sly syndrome), d
77 ese diabetic/severe combined immunodeficient/
mucopolysaccharidosis type VII (NOD/SCID/MPSVII) mouse m
78 Mucopolysaccharidosis type VII is a lysosomal storage di
79 Mucopolysaccharidosis type VII is characterized by glyco
80 0 mg/kg administered i.v. over 1-13 weeks to
mucopolysaccharidosis type VII mice immunotolerant to re
81 across the blood-brain barrier in the adult
mucopolysaccharidosis type VII mouse if administered at
82 nant beta-glucuronidase to newborn mice with
mucopolysaccharidosis type VII reduced lysosomal storage
83 eficiency of beta-glucuronidase (GUS) causes
mucopolysaccharidosis type VII that is characterized by
84 ains from beta-glucuronidase-deficient mice (
mucopolysaccharidosis type VII) showed complete reversal
85 typical inherited neurodegenerative disease,
mucopolysaccharidosis type VII.
86 ng GusB gene mutation responsible for murine
mucopolysaccharidosis type VII.
87 MT have long term positive effects on murine
mucopolysaccharidosis type VII.
88 ound) is superior to all previously reported
mucopolysaccharidosis types I, II, and VI assays.
89 atase that are used for newborn screening of
mucopolysaccharidosis types I, II, and VI.
90 We show that normal mice and mice with
mucopolysaccharidosis VII (MPS VII) develop hepatocellul
91 Mucopolysaccharidosis VII (MPS VII) is a lysosomal stora
92 Dogs with
mucopolysaccharidosis VII (MPS VII) were injected intrav
93 of GUSB causes the lysosomal storage disease
mucopolysaccharidosis VII (MPS VII, Sly disease).
94 Mucopolysaccharidosis VII (MPS VII, Sly syndrome) is an
95 Human
mucopolysaccharidosis VII (MPS VII, Sly syndrome) result
96 and ultimately to clinical manifestations of
mucopolysaccharidosis VII (Sly disease).
97 Murine
mucopolysaccharidosis VII cells transduced with a beta-g
98 The efficacy of gene therapy for
mucopolysaccharidosis VII depends on the levels of beta-
99 e transfer by retrovirus vectors into murine
mucopolysaccharidosis VII hematopoietic stem cells or fi
100 curonidase after subcutaneous passage in the
mucopolysaccharidosis VII mouse can be isolated by cell
101 se was tested in the mouse model of MPS VII (
mucopolysaccharidosis VII), a lysosomal storage disorder
102 nd biochemical abnormalities consistent with
mucopolysaccharidosis VII, an autosomal recessive lysoso
103 In the mouse model of
mucopolysaccharidosis VII, we found that specific region
104 nidase, the protein deficient in the disease
mucopolysaccharidosis VII, when expressed from viral vec
105 model for the congenital metabolic disorder
mucopolysaccharidosis VII.