Addition of MPS-II to the Recommended Uniform Screening Panel in the United States
International Journal of Neonatal Screening, 2022 It has recently been announced that the Secretary of the U.S. Department of Health and Human Services has approved the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add mucopolysaccharidosis type II (
David S. Millington, Can Ficicioglu
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Revista de la Asociación Odontológica Argentina, 2021 Resumen Objetivo: Describir las características bucales prevalentes de pacientes argentinos con mucopolisacaridosis (MPS) atendidos en el Servicio de Odontología del Hospital Nacional “Prof. Alejandro Posadas”.
Andrea Veronica Rios
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Frontiers in Genetics, 2023 Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul +11 more
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MAPK dysregulation in the brain pathology of mucopolysaccharidosis IIIB disease [PDF]
, 2010 The accumulation of heparan sulfate (HS) in lysosomes is the primary consequence of the enzyme defect (α-N-acetylglucosaminidase) in Mucopolysaccharidosis type IIIB.
Cecere, Francesca
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Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies [PDF]
, 2012 Cytotoxicity of laronidase (Aldurazyme®), employed in enzyme replacement therapy (ERT) for mucopolysaccharidosis type I (MPS I) and various siRNAs, tested previously in studies on substrate reduction therapy (SRT) for mucopolysaccharidoses, was ...
Banecka-Majkutewicz, Zyta +5 more
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Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency
Вопросы современной педиатрии, 2020 Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze +6 more
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Corrigendum to “Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II” [PDF]
, 2023 Corrigendum to “Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis ...
Jones, Simon A. +14 more
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Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up. [PDF]
J Inherit Metab DisABSTRACT This study investigated long‐term cognitive development and genotype–phenotype relationships in patients with Mucopolysaccharidosis Type II (MPS II). A nationwide prospective cohort study was conducted in the Netherlands with cognitive follow‐up since 2007.
Holdorp JJ +10 more
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Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases
Вопросы современной педиатрии, 2021 Background. Mucopolysaccharidosis (MPS) type II is an X-linked hereditary disease from the lysosomal storage diseases group. The absence or malfunctioning of the iduronate-2-sulfatase enzyme leads to disruption in glycosaminoglycans (GAG) degradation ...
Nato D. Vashakmadze +4 more
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MODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSIS
Вопросы современной педиатрии, 2014 Mucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes.
N. V. Buchinskaya +5 more
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