Results 141 to 150 of about 5,715,301 (195)

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases. [PDF]

Commun Med (Lond)
Tebani A, Guenet D, Torre S, Arion A, Héron B, Brassier A, Belmatoug N, Ausseil J, Bruel H, Lévéque C, Goldenberg A, Gruchy N, Apetrei A, Bach N, Guerrot AM, Samaan S, Ducatez F, Marret S, Bekri S.   +18 more
europepmc   +1 more source

Nasal Polyposis in mucopolysaccharidosis type II

BMJ Case Reports, 2021
Mucopolysaccharidosis (MPS) type II is a rare multisystem disorder resulting from the accumulation of breakdown products of glycosaminoglycans in the body tissues. Many patients with this disease undergo ENT (ear, nose and throat) surgeries such as adenotonsillectomy and tympanocentesis at a very early age, much before the diagnosis of MPS.
Sushmitha Kabekkodu, Suja Sreedharan, Kirti Gupta, Nirupama Murali   +3 more
openaire   +3 more sources

Audiologic evaluations of children with mucopolysaccharidosis

Brazilian Journal of Otorhinolaryngology, 2016
INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG).
Håkan Tutar, Yusuf Kemaloglu, Bulent Gunduz   +2 more
exaly   +2 more sources

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A molecular genetics view on Mucopolysaccharidosis Type II

Mutation Research/Reviews in Mutation Research, 2021
Mucopolysaccharidosis 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. MPS II symptoms are caused by mutations in the lysosomal iduronate-2-sulfatase (IDS) gene.
Shalja Verma, Supansa Pantoom, Janine Petters, Anand Kumar Pandey, Andreas Hermann, Jan Lukas   +5 more
openaire   +3 more sources

Expanding the phenotype of mucopolysaccharidosis type II retinopathy

Ophthalmic Genetics, 2021
Purpose: To report novel retinal findings in two male patients with mucopolysaccharidosis type II (Hunter syndrome) receiving long-term human recombinant idursulfase enzyme replacement therapy.Method: Two males aged 19 and 26 years who had received enzyme replacement therapy for 12 and 13 years, respectively, with good compliance and no infusion ...
Tanya Kowalski, Jonathan B Ruddle, Gerard de Jong, Heather G Mack   +3 more
openaire   +2 more sources

Idursulfase for the treatment of mucopolysaccharidosis II

Expert Opinion on Pharmacotherapy, 2008
Human recombinant proteins are being used to treat an increasing number of disorders. Advances in the large scale production of recombinant proteins and the understanding of glycosylation and its importance for protein targeting and function have led to the development of recombinant enzyme-replacement regimens for a number of human lysosomal storage ...
openaire   +2 more sources

Mucopolysaccharidosis type II – genotype/phenotype aspects

Acta Paediatrica, 2002
Establishing correlations between a patient's genotype and clinical phenotype is based on the assumption that the same clinical consequences will be observed in individuals with the same residual function of a specific metabolic step. In mucopolysaccharidosis type II (MPS II; Hunter disease), patients present with a wide clinical spectrum. Furthermore,
Froissart, R, Silva, IMoreira da, Guffon, N, Bozon, D, Maire, I   +4 more
openaire   +3 more sources

Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)

Current Pharmaceutical Design, 2020
Background:Mucopolysaccharidosis type II (Hunter syndrome, or MPS II) is an X-linked lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which leads to the accumulation of glycosaminoglycans (GAGs) in a variety of tissues, resulting in a multisystemic disease that can also impair the central nervous system (CNS).Objective:This review ...
Francyne Kubaski, Filippo Vairo, Guilherme Baldo, Fabiano de Oliveira Poswar, Amauri Dalla Corte, Roberto Giugliani   +5 more
openaire   +2 more sources