Cargando…

Comparison of growth dynamics in different types of MPS: an attempt to explain the causes

BACKGROUND: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficient activity of enzymes responsible for the catabolism of glycosaminoglycans (GAGs), resulting in progressive damage to various tissues and organs. Affected individuals present with skeletal deformitie...

Descripción completa

Detalles Bibliográficos
Autores principales:	Różdżyńska-Świątkowska, Agnieszka, Zielińska, Anna, Tylki-Szymańska, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446781/ https://www.ncbi.nlm.nih.gov/pubmed/36064607 http://dx.doi.org/10.1186/s13023-022-02486-4

Ejemplares similares

The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II
por: Żuber, Zbigniew, et al.
Publicado: (2014)

Anthropometric Phenotype of Patients with PMM2-CDG
por: Lipiński, Patryk, et al.
Publicado: (2021)

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature
por: Różdżyńska-Świątkowska, Agnieszka, et al.
Publicado: (2020)

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2019)

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm
por: Lipiński, Patryk, et al.
Publicado: (2020)

Ultrasonographic Features of Hip Joints in Mucopolysaccharidoses Type I and II
por: Żuber, Zbigniew, et al.
Publicado: (2015)

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG
por: Mitusińska, Karolina, et al.
Publicado: (2022)

Long-term outcome of patients with alpha-mannosidosis – A single center study
por: Lipiński, Patryk, et al.
Publicado: (2021)

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2020)

Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases
por: Pokora, Paulina, et al.
Publicado: (2018)

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients
por: Lipiński, Patryk, et al.
Publicado: (2022)

Diagnostic difficulties in patients with attenuated form of MPS VI
por: Opoka – Winiarska, V, et al.
Publicado: (2011)

Treatment trials in Niemann-Pick type C disease
por: Sitarska, Dominika, et al.
Publicado: (2021)

Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study
por: Węgrzyn, Grzegorz, et al.
Publicado: (2005)

Polish 2012 growth references for preschool children
por: Kułaga, Zbigniew, et al.
Publicado: (2013)

Growth patterns in patients with mucopolysaccharidosis VII
por: Montaño, Adriana M., et al.
Publicado: (2023)

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature
por: Jurecka, Agnieszka, et al.
Publicado: (2013)

A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach
por: Szymańska-Rożek, Paulina, et al.
Publicado: (2023)

Adenylosuccinate lyase deficiency
por: Jurecka, Agnieszka, et al.
Publicado: (2014)

On the Influence of Change of Posture on the Characters of Endocardial Murmurs; with an Attempt to Explain the Cause
por: Ringer, Sydney
Publicado: (1861)

Differences in MPS I and MPS II Disease Manifestations
por: Hampe, Christiane S., et al.
Publicado: (2021)

Prevalence rates of mucopolysaccharidoses in Poland
por: Jurecka, Agnieszka, et al.
Publicado: (2014)

Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype
por: Golda, Adam, et al.
Publicado: (2015)

Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up
por: Szymańska, Edyta, et al.
Publicado: (2015)

Follow-up analysis of voice quality in patients with late-onset Pompe disease
por: Szklanny, Krzysztof, et al.
Publicado: (2018)

Congenital Disorders of Glycosylation: What Clinicians Need to Know?
por: Lipiński, Patryk, et al.
Publicado: (2021)

Tyrosinemia type III in an asymptomatic girl
por: Szymanska, Edyta, et al.
Publicado: (2015)

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
por: de Ru, Minke H, et al.
Publicado: (2012)

An Attempt to Explain Visual Aesthetic Appreciation
por: Grinde, Bjørn, et al.
Publicado: (2022)

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up
por: Lipiński, Patryk, et al.
Publicado: (2019)

Comparative Methods to Evaluate the Antioxidant Capacity of Propolis: An Attempt to Explain the Differences
por: Paula, Vanessa B., et al.
Publicado: (2023)

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population
por: Lipiński, Patryk, et al.
Publicado: (2021)

Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland
por: Żuber, Zbigniew, et al.
Publicado: (2023)

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder
por: Wijburg, Frits A, et al.
Publicado: (2013)

Voice alterations in patients with Morquio A syndrome
por: Szklanny, Krzysztof, et al.
Publicado: (2017)

Deficyt Aktywności Transaldolazy – Obraz Kliniczny, Patogeneza, Diagnostyka
por: Lipiński, Patryk, et al.
Publicado: (2018)

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience
por: Szymańska, Edyta, et al.
Publicado: (2020)

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation
por: Lipiński, Patryk, et al.
Publicado: (2021)

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)
por: Muenzer, Joseph, et al.
Publicado: (2017)

Pediatric Liver Disease Patients and Secondary Glycosylation Abnormalities
por: Bogdańska, Anna, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_rtlh30vn50u41fjovj6s1mh2g4