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MPS

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants

2022-09-01

This study presents the status of variant alleles and biochemistry results found in infants suspected of having MPS I, II, IVA, and VI.

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

2022-05-27

A variant in the form of IDUA gene deletion may indicate an early severe phenotypic presentation of Mucopolysaccharidosis type I (MPS I).

MPS

Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study

2021-10-22

The aim of this study was to investigate the decline of activities of daily living with symptomatic progression in patients with mucopolysaccharidosis type II (MPS II) and investigate the associated factors.

MPS

Differences in MPS I and MPS II Disease Manifestations

2021-07-23

While enzyme replacement therapy (ERT) has beneficial effects on respiratory and cardiopulmonary function and extends the lifespan of MPS II patients, it does not significantly affect CNS manifestations. Therefore, many experimental therapies aim to prevent neurocognitive decline in these patients.

MPS

Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries

2021-05-25

This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America. The disease burden for MPS-IVA/VI was high in Latin America, with consistent management, treatment and socio-demographic trends throughout the region.

MPS

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

2021-01-29

There are two types of the Mucopolysaccharidosis type I (MPS I) disease: severe form (Hurler syndrome) and attenuated form (Hurler-Scheie, Scheie). Current treatments can partially prevent, but not significantly improve, clinical manifestations, necessitating early diagnosis of disease and commencement of treatment.

MPS

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

2020-02-13

This review summarizes the history of Mucopolysaccharidosis type II (MPS II, Hunter syndrome) through clinical and laboratory evaluations that allowed its correct diagnosis, pathogenesis, and therapeutic protocols. The main issues are also highlighted related to the possible newborn screenings for MPS II, brain pathogenesis, and treatment of the neurological compartment.

MPS

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management

2020-02-01

Early and accurate diagnosis in the asymptomatic stage is critical for mucopolysaccharidosis (MPS) patients. This study updates details on the clinical manifestations, diagnosis, and treatment of the various types of MPS with the hopes of generating further interest in the disease.

MPS

Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age

2017-06-01

The aim of this study was to assess every effectiveness variable modified in Mucopolysaccharidosis Type I (MPS-I) patients who initiated laronidase at adult age.

MPS

Unique medical issues in adult patients with mucopolysaccharidoses

2016-10-01

In this article, the distinctive pattern of medical difficulties and multi-organ involvement seen in adult patients with mucopolysaccharidosis (MPS) is highlighted, as well as the obstacles that come with MPS management.

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