Articles tagged with Mucopolysaccharidosis
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Enfermedad de Hunter: Cuando sospecharla, como diagnosticarla y el estudio clínico de CENTOGENE: Bio-Hunter
¿Estas interesado en aprender más sobre la enfermedad de Hunter- un desorden de depósito lisosomal causante de una serie de alteraciones en órganos como el corazón, sistema nervioso central y óseo?
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"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Large genomic rearrangement mutations are hard to detect by conventional genetic diagnostic approaches, but easily identified by the MLPA technology. For MPS I, a recessive lysosomal storage disorder, a correspondingly developed approach involving scientists from CENTOGENE proved highly successful.…
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Mucopolysaccharidosis Type 2 (MPS II)
Mucopolysaccharidosis type II (also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation and caused by lack of the enzyme iduronate sulfatase, encoded by the IDS gene.
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Mucopolysaccharidosis Type ICH (MPS1-H)
MPS I has been divided into three broad groups based on severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively; and the Hurler-Scheie syndrome is intermediate in…
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Mucopolysaccharidosis Type IVA
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio syndrome A, is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate.
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Biomarkers for Lysosomal Storage Disorders
Interested in the latest innovations in metabolic disease diagnostics and assessing the effects of therapy? Do you want to learn more about biochemical genetic testing at CENTOGENE? Join this webinar to learn more about novel biomarkers for lysosomal storage disorders (LSDs).
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Mucopolysaccharidoses
Mucopolysaccharidoses are a group of rare inherited metabolic disorders caused by the absence or dysfunction of lysosomal enzymes and subsequent lysosomal storage of glycosaminoglycans. This group of numerous and highly diverse diseases, with a broad range of symptoms and genetic causes, can be…
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BioSly – Biomarker for Sly Disease
Mucopolysaccharidosis type VII (also known as Sly syndrome) is an inherited disease caused by a lack of the enzyme beta-glucuronidase. The goal of the study is to validate this new biochemical marker for Sly disease from the plasma of the affected patients, helping to benefit other patients by an…
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BioHurler – Biomarker for Hurler Disease
The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier treatment.
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BioSanfilippo – Biomarker for Sanfilippo Disease
Mucopolysaccharidosis type VII (also known as Sly syndrome) is an inherited disease caused by a lack of the enzyme beta-glucuronidase. This enzyme is needed to break down substances in the body called glycosaminoglycans (GAGs). If the enzyme is not present, GAGs cannot be broken down and they build…
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BioMorquio – Biomarker for Morquio Disease
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier treatment. Examining…
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BioHunt – Biomarker for Hunter Disease
The validation of this new biochemical marker from the plasma and saliva of the affected patients is the goal of this study.