Results 201 to 210 of about 32,710 (240)
Allogeneic hematopoietic stem cell transplantation modulates neurodevelopmental trajectories in mucopolysaccharidosis: a longitudinal study of subtype-specific outcomes and age-dependent efficacy. [PDF]
Orphanet J Rare DisXu Y +7 more
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Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA. [PDF]
Front PediatrArnaboldi SMC +11 more
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A molecular genetics view on Mucopolysaccharidosis Type II.
Mutation research. Reviews in mutation research, 2021Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the disease is one of the orphan diseases.
Shalja Verma +5 more
semanticscholar +1 more source
Journal of Pediatric Endocrinology & Metabolism (JPEM), 2021
Objectives Mucopolysaccharidosis III, an autosomal recessive lysosomal storage disorder, is characterized by progressive mental retardation and behavioral problems.
Weijing Kong +5 more
semanticscholar +1 more source
Objectives Mucopolysaccharidosis III, an autosomal recessive lysosomal storage disorder, is characterized by progressive mental retardation and behavioral problems.
Weijing Kong +5 more
semanticscholar +1 more source
Science Translational Medicine, 2020
In utero therapy with recombinant enzyme or hematopoietic stem cells in MPS7 mice induces tolerance to missing enzyme and corrects brain microglia. When treating at birth is too late Mucopolysaccharidosis type VII (MPS7) is a rare and severe lysosomal ...
Q. Nguyen +11 more
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In utero therapy with recombinant enzyme or hematopoietic stem cells in MPS7 mice induces tolerance to missing enzyme and corrects brain microglia. When treating at birth is too late Mucopolysaccharidosis type VII (MPS7) is a rare and severe lysosomal ...
Q. Nguyen +11 more
semanticscholar +1 more source
[Mucopolysaccharidosis: A review].
La Revue de medecine interne, 2020Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.66 newborns per 100,000. The severity of mucopolysaccharidosis
M. Michaud +6 more
semanticscholar +1 more source
The Journal of Pediatrics, 1970
Two sibs, the children of healthy unrelated parents, have been evaluated because of multiple soft tissue contractures. Both were found to excrete excessive amounts of mucopolysaccharides, primarily heparitin sulfate, and chondroitin sulfate B. Neither had the bony abnormalities characteristic of the other disorders of mucopolysaccharide metabolism, but
W A, Horton, R N, Schimke
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Two sibs, the children of healthy unrelated parents, have been evaluated because of multiple soft tissue contractures. Both were found to excrete excessive amounts of mucopolysaccharides, primarily heparitin sulfate, and chondroitin sulfate B. Neither had the bony abnormalities characteristic of the other disorders of mucopolysaccharide metabolism, but
W A, Horton, R N, Schimke
openaire +2 more sources
Rivista europea per le scienze mediche e farmacologiche = European review for medical and pharmacological sciences = Revue europeenne pour les sciences medicales et pharmacologiques, 1990
The mucopolysaccharidoses comprise a heterogeneous group of inborn errors of metabolism. Usually these disorders culminate in severe disability over many years, and only seldom result in death in infancy. The prospect of gaining a certain amount of control over the incidence and progression of these rare but costly diseases amply justifies the large ...
A, Cantani, F, Mastrantoni
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The mucopolysaccharidoses comprise a heterogeneous group of inborn errors of metabolism. Usually these disorders culminate in severe disability over many years, and only seldom result in death in infancy. The prospect of gaining a certain amount of control over the incidence and progression of these rare but costly diseases amply justifies the large ...
A, Cantani, F, Mastrantoni
openaire +3 more sources
In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system
Journal of Controlled Release, 2018Mucopolysaccharidosis type I (MPS I) is a multisystemic disorder caused by the deficiency of alpha‐L‐iduronidase (IDUA) that leads to intracellular accumulation of glycosaminoglycans (GAG). In the present study we aimed to use cationic liposomes carrying
R. Schuh +9 more
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