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 lerability of ZFN in vivo editing therapy in
mucopolysaccharidosis I (MPS I) (n = 3), MPS II (n = 9),
5 rapy (ERT) for the lysosomal storage disease
mucopolysaccharidosis I (MPS I) involves i.v. injection
6 Mucopolysaccharidosis I (MPS I) is an inherited metaboli
7 ny of dogs with the genetic storage disease,
mucopolysaccharidosis I (MPS-I).
8 ular tissues were obtained from 58 dogs with
mucopolysaccharidosis I and four unaffected controls.
9 Mucopolysaccharidosis I Hurler (MPSI-H) is a pediatric l
10 Mucopolysaccharidosis I is a lysosomal storage disease c
11 In patients with
mucopolysaccharidosis I, treatment with recombinant huma
12 nine model of the lysosomal storage disorder
mucopolysaccharidosis I.
13 (IdS) activity for the neonatal detection of
mucopolysaccharidosis II (MPS-II, Hunter Syndrome).
14 Sanfilippo syndrome type B (
mucopolysaccharidosis III B) is a rare autosomal recessi
15 Sanfilippo syndrome type B (
mucopolysaccharidosis III B, MPS III B) is an autosomal
16 of the disease we generated a mouse model of
mucopolysaccharidosis III type C by germline inactivatio
17 progressive neurological paediatric disease
mucopolysaccharidosis III type C is caused by mutations
18 the neurons and neuronal loss explaining why
mucopolysaccharidosis III type C manifests primarily as
19 Mucopolysaccharidosis IIIA or Sanfilippo disease type A
20 Sanfilippo syndrome Type B or
Mucopolysaccharidosis IIIB (MPS IIIB) is a neurodegenera
21 e description of such symptoms in parents of
mucopolysaccharidosis IIIB cases.
22 Alpha-N-acetylglucosaminidase deficiency (
mucopolysaccharidosis IIIB, MPS IIIB) and alpha-l-iduron
23 The majority of
mucopolysaccharidosis IIIC (MPS IIIC) patients have miss
24 generative lysosomal storage disorder called
mucopolysaccharidosis IIIC (MPS IIIC).
25 GSNAT cause HS accumulation and consequently
mucopolysaccharidosis IIIC, a devastating lysosomal stor
26 Our data delineating the phenotype of
mucopolysaccharidosis IIIE in a mouse KO model should he
27 patients with the lysosomal storage disease
mucopolysaccharidosis IV A (also known as MPS IV A and M
28 Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal stora
29 Mucopolysaccharidosis IVA (MPS IVA) is an autosomal rece
30 Mucopolysaccharidosis IVA (MPS IVA) is an autosomal rece
31 Mucopolysaccharidosis IVA is an autosomal recessive diso
32 and metabolism in a mouse model of type IIIa
mucopolysaccharidosis (
MPS IIIa, Sanfilippo A syndrome).
33 re key reporters for profiling the burden of
mucopolysaccharidosis (
MPS) disease at baseline and duri
34 red metabolism of heparan sulfate, including
Mucopolysaccharidosis (
MPS) III and MPS-II, exhibit lyso
35 Mucopolysaccharidosis (
MPS) IIIB (Sanfilippo syndrome B;
36 The lysosomal storage pathology in
Mucopolysaccharidosis (
MPS) IIIB manifests in cells of v
37 Sanfilippo syndrome type B, or
mucopolysaccharidosis (
MPS) IIIB, is an autosomal recess
38 Mucopolysaccharidosis (
MPS) is a metabolic storage disor
39 d therapeutic evaluation in a mouse model of
mucopolysaccharidosis (
MPS) type I, one of the most comm
40 ltisystem progressive degenerative syndrome,
mucopolysaccharidosis (
MPS) type VII (Sly disease), whic
41 The
mucopolysaccharidosis (
MPS) type VII mouse was originall
42 Mucopolysaccharidosis (
MPS) type VII patients lack funct
43 associated with numerous diseases, including
mucopolysaccharidosis (
MPS) type VII.
44 storage in an immunotolerant model of murine
mucopolysaccharidosis (
MPS) type VII.
45 Mucopolysaccharidosis (
MPS) type-IH is a lysosomal stora
46 Mice with the lysosomal storage disease
mucopolysaccharidosis (
MPS) VII, caused by a deficiency
47 BackgroundSanfilippo type B is a
mucopolysaccharidosis (
MPS) with a major neuronopathic c
48 age begins in prenatal life in patients with
mucopolysaccharidosis (
MPS).
49 asts, and corrected the disease phenotype of
mucopolysaccharidosis patient fibroblasts in vitro.
50 The
mucopolysaccharidosis phenotype is not seen in the Tay-S
51 erved corneal multimodal imaging features in
mucopolysaccharidosis-
related keratopathy were concordan
52 n has significantly extended the lifespan of
mucopolysaccharidosis type 1 (MPS1) patients, over 95% m
53 Mucopolysaccharidosis type I (i.e., Hurler, Hurler-Schei
54 Mucopolysaccharidosis type I (MPS I) causes systemic acc
55 Mucopolysaccharidosis type I (MPS I) is an inherited lys
56 Mucopolysaccharidosis type I (MPS I) is one of the most
57 Patients with
mucopolysaccharidosis type I (MPS I), a genetic deficien
58 (IDUA), which is deficient in patients with
mucopolysaccharidosis type I (MPS I).
59 lastoid cell line derived from patients with
mucopolysaccharidosis type I (MPS I).
60 Mucopolysaccharidosis type I (MPS IH; Hurler syndrome) i
61 We tested this concept in
mucopolysaccharidosis type I (MPS IH; Hurler syndrome),
62 Mucopolysaccharidosis type I (MPS-I) is a progressive mu
63 ls [type I hereditary tyrosinemia (HT-I) and
mucopolysaccharidosis type I (MPS-I)] in mice by HDR-bas
64 Mucopolysaccharidosis type I (MPS-IH, Hurler syndrome) i
65 ldren with severe phenotype Hurler syndrome (
mucopolysaccharidosis type I [MPS I]).
66 yme replacement therapy for the treatment of
mucopolysaccharidosis type I and potentially many other
67 Among these enzymopathies,
mucopolysaccharidosis type I is a rare genetic lysosomal
68 Hurler's syndrome (the most severe form of
mucopolysaccharidosis type I) causes progressive deterio
69 -iduronidase (IDUA), the defective enzyme in
Mucopolysaccharidosis type I, and observed a 10-fold sup
70 is the standard of care for Hurler syndrome (
mucopolysaccharidosis type I, Hurler variant [MPSIH]).
71 pha-L-iduronidase, the corrective enzyme for
Mucopolysaccharidosis type I, were produced using a toba
72 Mucopolysaccharidosis type I-Hurler syndrome (MPS-IH) is
73 allogeneic transplantation of children with
mucopolysaccharidosis type I-Hurler syndrome (MPS-IH), a
74 se mutation in the IDUA-W392X mouse model of
mucopolysaccharidosis type I-Hurler syndrome.
75 rogenitor cells as a potential treatment for
Mucopolysaccharidosis type I.
76 ities in an immunocompromised mouse model of
Mucopolysaccharidosis type I.
77 atase (IDS), a lysosomal enzyme deficient in
mucopolysaccharidosis type II (MPS II), and compared the
78 Mucopolysaccharidosis type II (MPS II), or Hunter syndro
79 lysaccharidoses and particularly features of
mucopolysaccharidosis type III (Sanfilippo syndrome).
80 Sanfilippo disease (
mucopolysaccharidosis type III [MPS III]) is a rare neur
81 Compared with the natural history of
mucopolysaccharidosis type III syndromes, neurocognitive
82 Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosoma
83 Mucopolysaccharidosis type IIIA (MPS IIIA) is an autosom
84 Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare and
85 Mucopolysaccharidosis type IIIB (MPS IIIB) is an autosom
86 Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo sy
87 Mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo sy
88 Mucopolysaccharidosis type IIIB syndrome (also known as
89 mann-Pick disease type A, Sanfilippo type B (
mucopolysaccharidosis type IIIB, MPSIIIB), and Tay-Sachs
90 Mucopolysaccharidosis type IVA (MPS IVA) is a rare disea
91 Mucopolysaccharidosis type VI (MPS VI) is the lysosomal
92 embranous nephropathy (MN) in a patient with
mucopolysaccharidosis type VI caused by aryl sulfatase B
93 we introduced the MR-null mutation onto the
mucopolysaccharidosis type VII (MPS VII) background and
94 thological improvements in a murine model of
mucopolysaccharidosis type VII (MPS VII) caused by beta-
95 Mucopolysaccharidosis type VII (MPS VII) is an inherited
96 delivery of enzymes to lysosomes in a murine
mucopolysaccharidosis type VII (MPS VII) model.
97 ith or without the lysosomal storage disease
mucopolysaccharidosis type VII (MPS VII) show high morbi
98 The severity of human
mucopolysaccharidosis type VII (MPS VII), or Sly syndrom
99 rrow in vitro into syngeneic recipients with
mucopolysaccharidosis type VII (MPS VII).
100 emonstrate this concept in a murine model of
mucopolysaccharidosis type VII (MPS VII).
101 iatum of adult beta-glucuronidase deficient [
mucopolysaccharidosis type VII (MPS VII)] mice, an anima
102 Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) i
103 Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) i
104 he beta-glucuronidase (GUSB) mutation of the
mucopolysaccharidosis type VII (MPSVII) mouse was backcr
105 The mice, a model of
mucopolysaccharidosis type VII (MPSVII, Sly syndrome), d
106 ese diabetic/severe combined immunodeficient/
mucopolysaccharidosis type VII (NOD/SCID/MPSVII) mouse m
107 Mucopolysaccharidosis type VII is a lysosomal storage di
108 Mucopolysaccharidosis type VII is characterized by glyco
109 0 mg/kg administered i.v. over 1-13 weeks to
mucopolysaccharidosis type VII mice immunotolerant to re
110 across the blood-brain barrier in the adult
mucopolysaccharidosis type VII mouse if administered at
111 nant beta-glucuronidase to newborn mice with
mucopolysaccharidosis type VII reduced lysosomal storage
112 eficiency of beta-glucuronidase (GUS) causes
mucopolysaccharidosis type VII that is characterized by
113 ains from beta-glucuronidase-deficient mice (
mucopolysaccharidosis type VII) showed complete reversal
114 MT have long term positive effects on murine
mucopolysaccharidosis type VII.
115 typical inherited neurodegenerative disease,
mucopolysaccharidosis type VII.
116 ng GusB gene mutation responsible for murine
mucopolysaccharidosis type VII.
117 ound) is superior to all previously reported
mucopolysaccharidosis types I, II, and VI assays.
118 atase that are used for newborn screening of
mucopolysaccharidosis types I, II, and VI.
119 We show that normal mice and mice with
mucopolysaccharidosis VII (MPS VII) develop hepatocellul
120 Mucopolysaccharidosis VII (MPS VII) is a lysosomal stora
121 Dogs with
mucopolysaccharidosis VII (MPS VII) were injected intrav
122 of GUSB causes the lysosomal storage disease
mucopolysaccharidosis VII (MPS VII, Sly disease).
123 Mucopolysaccharidosis VII (MPS VII, Sly syndrome) is an
124 Human
mucopolysaccharidosis VII (MPS VII, Sly syndrome) result
125 and ultimately to clinical manifestations of
mucopolysaccharidosis VII (Sly disease).
126 Murine
mucopolysaccharidosis VII cells transduced with a beta-g
127 The efficacy of gene therapy for
mucopolysaccharidosis VII depends on the levels of beta-
128 e transfer by retrovirus vectors into murine
mucopolysaccharidosis VII hematopoietic stem cells or fi
129 curonidase after subcutaneous passage in the
mucopolysaccharidosis VII mouse can be isolated by cell
130 se was tested in the mouse model of MPS VII (
mucopolysaccharidosis VII), a lysosomal storage disorder
131 nd biochemical abnormalities consistent with
mucopolysaccharidosis VII, an autosomal recessive lysoso
132 In the mouse model of
mucopolysaccharidosis VII, we found that specific region
133 nidase, the protein deficient in the disease
mucopolysaccharidosis VII, when expressed from viral vec
134 model for the congenital metabolic disorder
mucopolysaccharidosis VII.
135 A rare lysosomal disease resembling a
mucopolysaccharidosis with unusual systemic features, in