Mucopolysaccharidosis Classification

Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in an autosomal recessive manner and is caused by a deficiency in the lysosomal enzyme sulfamidase, which is required for the degradation of heparan sulfate Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene Hum Mutat. 2018 Dec;39(12):1788-1802. doi: 10.1002/humu.23613. Epub 2018 Sep 17. Authors Rosella Tomanin 1. Mucopolysaccharidosis has an autosomal recessive pattern of inheritance. It is estimated that 1 in 25,000 babies born in the United States will have some form of the mucopolysaccharidoses. [1] Most mucopolysaccharidoses are autosomal recessive disorders , meaning that only individuals inheriting the defective gene from both parents are affected

Bioinformatics classification of mutations in patients

Diagnosis and management of ophthalmological features in

Mucopolysaccharidosis type VI (MPS VI) and molecular

The mucopolysaccharidoses are classified as lysosomal storage diseases. These are conditions in which large numbers of molecules that are normally broken down or degraded into smaller pieces by intracellular units called lysosomes accumulate in harmful amounts in the body's cells and tissues, particularly in the lysosomes Mucopolysaccharidoses 1. Mucopolysaccharidoses Prof. Dr. Saad S Al Ani Senior Pediatric Consultant Head of Pediatric Department Khorfakkan Hospital Sharjah ,UAE saadsalani@aol.co Hunter syndrome, or Mucopolysaccharidosis type II is a progressive rare disease caused by a deficiency in the activity of the lysosomal enzyme, iduronate 2-sulphatase. It is inherited in an X-linked manner resulting in males being significantly affected Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) in different parts of the eye. Ocular problems are very common in MPS children, and the cornea, sclera, trabecular meshwork, retina, and optic nerve may all be involved Classification • Mucopolysaccharidosis (variable nervous system involvement) • Mucolipidoses (originally considered an MPS) • Glyco proteinoses • Glycogen storage • Sphingolipidoses • Lipid storage disorders • Multiple enzyme defects • Transport defects • Batten Disease 6

Mucopolysaccharidosis - Wikipedi

Mucopolysaccharidosis type I affects males and females in equal numbers, with an incidence of about 1 in 100,000 live births for the severe type, and an incidence of about 1in 500,000 live births for the attenuated type. Incidence is the number of people who develop a disorder over a given period of time (e.g. one year). The incidence for MPS. Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases, each of which is produced by an inherited deficiency of an enzyme involved in the degradation of acid mucopolysaccharides,..

Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, MIM# 253200) is a rare autosomal recessive disease caused by pathogenic variants in the arylsulfatase B (ARSB) gene, coding for one of the enzymes deputed to the degradation of mucopolysaccharides within lysosomes METHODS: A consensus procedure based on a combined modified Delphi method and a nominal group technique was undertaken. It consisted of two written rounds and a face-to-face meeting. Sixteen MPS I experts participated in the process. The main goal was to identify the most important indicators of phenotypic severity and include these in a. Mucopolysaccharidosis: One of a series of inherited metabolic disorders affecting a type of complex carbohydrate called a mucopolysaccharide that is deposited in body tissues because the person lacks the specific enzyme needed to metabolize it De Kramer RD, et al. Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): A chronic variant with an oligosymptomatic severe skeletal dysplasia. Am J Med Genet. 1992;44(2):145-52. Peterson L, et al. Mucopolysaccharidosis type VII. A morphoplogic, cytochemical, and ultrastructural study of the blood and bone marrow Dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS) are markers for a subset of mucopolysaccharidoses (MPS). Testing for DS, HS, and KS in dried blood spots can aid in the diagnosis of MPS types I, II, III, IV, and VI. Testing Algorithm. Delineates situations when tests are added to the initial order

E76.1 is a billable diagnosis code used to specify a medical diagnosis of mucopolysaccharidosis, type ii. The code E76.1 is valid during the fiscal year 2021 from October 01, 2020 through September 30, 2021 for the submission of HIPAA-covered transactions Mucopolysaccharidosis, type IVA; Index to Diseases and Injuries. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for the code E76.210 are found in the index: - Mucopolysaccharidosis - E76.3 - Morquio syndrome - E76.219 - A - E76.210. Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). In Morquio syndrome, the specific GAG which builds up in the body is called keratan sulfate.This birth defect, which is autosomal recessive, is a type of lysosomal. 252940. Autosomal recessive. 3. GNS. 607664. TEXT. A number sign (#) is used with this entry because mucopolysaccharidosis type IIID (MPS3D) is caused by homozygous mutation in the gene encoding N-acetylglucosamine-6-sulfatase (GNS; 607664) on chromosome 12q14 Drugs.com provides accurate and independent information on more than 24,000 prescription drugs, over-the-counter medicines and natural products. This material is provided for educational purposes only and is not intended for medical advice, diagnosis or treatment. Data sources include IBM Watson Micromedex (updated 1 July 2021), Cerner Multum™ (updated 1 July 2021), ASHP (updated 30 June.

[On the subject of classification of the hereditary

  1. Identifying patients with rare diseases associated with common symptoms is challenging. Hunter syndrome, or Mucopolysaccharidosis type II is a progressive rare disease caused by a deficiency in the activity of the lysosomal enzyme, iduronate 2-sulphatase. It is inherited in an X-linked manner resulting in males being significantly affected. Expression in females varies with the majority being.
  2. Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings J Pediatr Surg , 28 ( 3 ) ( 1993 ) , pp. 403 - 408 discussion 8-1
  3. oglycans in nearly all cell types, tissues and organs. The traditional classification of patients into 'mild' or 'severe.
  4. oglycans results in an accumulation and deposition of undegraded or partially degraded glucosa
  5. The incidence of mucopolysaccharidosis type I was the most common in all 3 countries, with 0.67, 1.85, and 0.54 cases per 100 000 newborns, respectively; for mucopolysaccharidosis type II, numbers were 0.27, 0.13, and 0.27 cases, respectively. For patients with other mucopolysaccharidosis disorders, the incidence varied widely
  6. oglycans (GAGs), also known as mucopolysaccharides. These conditions are differentiated by their clinical features and age of presentation ( table 1 )
  7. PDB entry 3hn3 View 3hn3 on RCSB PDB site Description: Human beta-glucuronidase at 1.7 A resolution Class: hydrolase Keywords: LYSOSOMAL ENZYME, ACID HYDROLASE, GLYCOSIDASE, Disease mutation, Glycoprotein, Hydrolase, Lysosome, Mucopolysaccharidosis Deposited on 2009-05-29, released 2009-12-01 The last revision prior to the SCOPe 2.06 freeze date was dated 2011-07-13, with a file datestamp of.

Clinical manifestations. The accumulation of partially degraded GAGs in the lysosomes of connective tissue cells and chondrocytes is thought to be responsible for most of the musculoskeletal manifestations seen in the different types of MPS [].Similar musculoskeletal manifestations are seen in all types of MPS, and it is usually the other major clinical manifestations that distinguish one type. Ocular pathology is common in patients with mucopolysaccharidosis (MPS), a hereditary lysosomal storage disorder, where the eye as well as other tissues accumulate excessive amounts of glycosaminoglycans. Despite genetic and phenotypic heterogeneity within and between different types of MPS, the disease symptoms and clinical signs often manifest during the first 6 months of life with. Mucopolysaccharidosis: One of a series of inherited metabolic disorders affecting a type of complex carbohydrate called a mucopolysaccharide that is deposited in body tissues because the person lacks the specific enzyme needed to metabolize it. The deposition of mucopolysaccharide in tissues damages and distorts them, stunts the child's growth and development, limits their joint movement and. Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder resulting from deficiency of the enzyme α-L-iduronidase. Deficiency of this enzyme causes an accumulation of dermatan sulfate and heparan sulfate, which are known as glycosaminoglycans (GAGs). The accumulation of GAGs in the lysosomes, cellular cytosol.

Classification. All members of the mucopolysaccharidosis family are also lysosomal storage diseases. Mucopolysaccharidosis type I (MPS I) is divided into three subtypes based on severity of symptoms. All three types result the absence or decreased functioning of the same enzyme. MPS-IH (Hurler syndrome) is the most severe of the MPS I subtypes Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. It is a form of lysosomal storage disease.Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The lack of this enzyme causes heparan sulfate and. Hurler syndrome is considered as mucopolysaccharidosis type I (MPH I) and formerly known as gargoylism. In 1962, a milder form of MPS I was identified and named as Scheie syndrome. Classification. Hurler syndrome is caused by a deficiency of a lysosomal enzyme, IUDA, which aids in the breakdown of dermatan sulfate and heparin sulfate (GAG. Table 1 Mucopolysaccharidosis (MPS) classification, etiology, and clinical and imaging features Full size table Treatment includes correction of the enzymatic defect with intravenous enzyme replacement therapy or hematopoietic stem cell transplantation

Epidemiology of mucopolysaccharidose

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II) is a rare genetic mucopolysaccharidosis disorder characterized by specific clinical features 1. Epidemiology Hunter syndrome is an X-linked recessive disease and therefore mu..

Mucopolysaccharidoses seen in adults in rheumatology

Cardiac manifestations of the mucopolysaccharidose

Mucopolysaccharidosis. There is straightening of the dorsal lordosis. The inferior-most thoracic and superior-most lumbar vertebral bodies show an abnormal shape with anterior notches on either the superior or mid-thirds, as well as a degree of inferior beaking. The interpedicular distance is preserved ICD-10-CM Code for Mucopolysaccharidosis, type II E76.1 ICD-10 code E76.1 for Mucopolysaccharidosis, type II is a medical classification as listed by WHO under the range - Endocrine, nutritional and metabolic diseases Tomanin R, Karageorgos L, Zanetti A, et al. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ARSB gene. Hum Mutat 2018; 39(12):1788-1802. doi: 10.1002/humu23613 The radiographic manifestations of the HS-mucopolysaccharidosis of Sanfilippo, with discussion of this condition in relation to the other mucopolysaccharidoses and a classification of these fundamentally similar entities. Ann. Radiol. 7: 315-325, 1964

Video: Mucopolysaccharidosis type I - Wikipedi

Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III patients. The purpose of this study was to describe hip pathologies and influencing parameters in MPS III patients Mucopolysaccharidosis type I (MPS I) is the most common type of MPS. MPS I is heterogeneous, and symptom severity varies widely. Historically, the most-to-least severe subtypes of MPS I were as follows: Hurler syndrome (MPS IH, OMIM #607014), Hurler-Scheie syndrome (MPS I-HS, OMIM #607015), and Scheie syndrome (MPS IS, OMIM #6076016).. MPS VI and VII ( 253220) were more rare and accounted for 1.7% and 1.3%, respectively. A retrospective epidemiologic data collection was performed in Switzerland between 1975 and 2008 (34 years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births Mucopolysaccharidosis (277.5) ICD-9 code 277.5 for Mucopolysaccharidosis is a medical classification as listed by WHO under the range -OTHER METABOLIC AND IMMUNITY DISORDERS (270-279). Subscribe to Codify and get the code details in a flash Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product

Mucopolysaccharidosis III (Sanfilippo syndromes) types A-D are rare lysosomal storage disorders characterized by heparan sulfate accumulation and neurodegeneration. Patients with MPS III present with developmental stagnation and/or regression, sleep disturbance, and behavioral abnormalities usually in the first years of life. Epilepsy may occur in a proportion of patients during the disease. Mucopolysaccharidosis III Market Insight, Epidemiology and Market Forecast -2030. The global market for Mucopolysaccharidosis III estimated at USD XX million in the year 2020, is projected to reach a revised size of USD XX million by 2027, growing at a CAGR of XX % over the analysis period 2020-2027. The report provides the analysis of the Mucopolysaccharidosis III market across different regions Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome and polydystrophic dwarfism, which is inherited as an autosomal-recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. MPS VI is characterized by somatic features but not by mental retardation

Classification of corneal clouding | Download Scientific

Mucopolysaccharidosis - an overview ScienceDirect Topic

MPS I (Hurler-Scheie) is a continuum of severity based upon the symptoms, ranging from severe to attenuated. There is a great deal of variability of symptoms among individuals with MPS I, often making the specific designation difficult. Generally, severe MPS I will present within the first year of life while less severe (attenuated) forms. This classification shall be the initial classification of the device. Within 30 days after the issuance of an order classifying the device, FDA must publish a notice in the Federal Register classifying the device type. On August 7, 2015, FDA received your de novo requesting classification of the SEEKER System into class II Case Discussion. Hurler syndrome is one of the mucopolysaccharidosis (MPS type IH) and carries an autosomal recessive inheritance. It is clinically characterized by intellectual disability, corneal clouding, deafness and cardiac disease, with death resulting in first decade of life, often from cardiac disease Highlights. Using liquid chromatography-tandem mass spectrometry, this quantitative urine mucopolysaccharide screen provides analysis of the specific sulfates that are associated with at least 13 different disorders. Testing Algorithm. Delineates situations when tests are added to the initial order. This includes reflex and additional tests

Mucopolysaccharidosis - wikido

Mucopolysaccharidosis (MPS) type I is an autosomal recessive inherited metabolic disorder caused by a deficiency of lysosomal α-iduronidase (IDUA, EC Consequently, the glycosaminoglycans (GAGs) heparan- and dermatan-sulfate accumulate within the lysosomes causing cellular dysfunction [1, 2] Keywords: Mucopolysaccharidosis type I, Iduronidase, Classification, Phenotype, Haematopoietic stem cell transplantation, Residual enzyme activity, Newborn screening, Enzyme replacement therapy, Disease severity * Correspondence: f.a.wijburg@amc.uva.nl †Equal contributors 1Department of Pediatrics and Amsterdam Lysosome Centre Sphinx

MPSBS : The mucopolysaccharidoses (MPS) are a group of disorders caused by a deficiency of any of the enzymes involved in the stepwise degradation of dermatan sulfate, heparan sulfate, keratan sulfate, or chondroitin sulfate (glycosaminoglycans: GAG, also called mucopolysaccharides). Undegraded or partially degraded GAG are stored in lysosomes and excreted in the urine Test description. The Invitae Mucopolysaccharidoses Plus (MPS +) Panel analyzes genes associated with mucopolysaccharidoses, mucolipidoses, and oligosaccharidoses.This panel may be appropriate for individuals with signs and symptoms of mucopolysaccharidosis, such as coarse facial features, progressive cognitive disability, inguinal and/or umbilical hernias, hepatosplenomegaly, cardiac valve. Classification contd According to their dominant clinical features MPSs can be grouped into four broad categories: Soft tissue storage and skeletal disease with or without brain disease (MPS I, II, VII). Soft tissue and skeletal disease (MPS VI) Primarily skeletal disorders (MPS IVA, IVB) Primarily central nervous system disorders (MPS III A.

Mucopolysaccharidoses - SlideShar

Mucopolysaccharidosis type II detection by Naïve Bayes

  1. Summary. The Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel (test code ME1501): Test Specific Strength. All exons of the GBA gene have segmentally duplicated pseudogenes that reduce sensitivity of NGS diagnostics in general. However, Blueprint Genetics custom assay has good coverage (>20x) with high mapping rates (mapping quality >40) for 100.0% of the target regions in.
  2. oglycan (GAG) accumulation, caused by a deficiency of iduronate-2-sulfatase (I2S). Enzyme replacement therapy (ERT) with recombinant idursulfase (IDS), the standard of care, was started in the Philippines in 2017. This study reviewed the clinical outcomes in idursulfase.
  3. oglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. Terms. Mucopolysaccharidoses Preferred Term
  4. Galsulfase is used to treat some of the symptoms of a genetic condition called mucopolysaccharidosis VI (MYOO-koe-pol-ee-SAK-a-rye-DOE-sis type 6), or MPS VI, also called Maroteaux-Lamy syndrome. MPS VI is a metabolic disorder in which the body lacks the enzyme needed to break down certain natural substances
  5. oglycans: GAG, also called mucopolysaccharides). Undegraded or partially degraded GAG are stored in lysosomes and.
  6. Highlights of the Mucopolysaccharidosis Treatment Market Report Include: Microscopic study of the various factors driving and restraining the market Careful classification and research of the.
  7. oglycans (GAGs) and characterized by a wide variability of phenotypes from severe fetal-neonatal forms to attenuated diseases diagnosed in adult individuals. The clinical picture generally worsens with age due to progressive storage involving mucosal tissue, upper airways and lungs, bones.

The Mucopolysaccharidosis I report covers a detailed overview explaining its causes, symptoms, classification, pathophysiology, diagnosis and treatment patterns The Mucopolysaccharidosis I Epidemiology Report and Model provide an overview of the risk factors and global trends of Mucopolysaccharidosis I in the seven major markets (7MM:US, France. Disease definition. Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B). NLM Classification # Previous Indexing Carbohydrate Metabolism, Inborn Errors (1966-1974 Sanfilippo syndrome (Mucopolysaccharidosis III; MPS III) is an inherited lysosomal storage disorder caused by an inability to degrade heparan sulfate. There are 4 types of MPS III (MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID) that are distinguished by the specific enzyme defect

Classification: Presentation: Title: Therapy for mucopolysaccharidosis II with an intravenous blood-brain barrier-crossing enzyme (JR-141): 26-week results from a phase 3 study in Japan suggesting significant efficacy against central nervous system and systemic symptoms: Presentations / Publications: Virus Safety of Pharmaceuticals Symposium. Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway. The evidence base for anesthesia management is often limited to case reports and small case series. To identify useful information about experience with each subtype of mucopolysaccharidosis reported in the literature and propose.

Patent Report: | US10092540 | Method of treatment of a

Vestronidase alfa is a recombinant beta-glucuronidase used to treat mucopolysaccharidosis VII. Vestronidase alfa, or vestronidase alfa-vjbk, is a recombinant human lysosomal beta glucuronidase that is a purified enzyme produced by recombinant DNA technology in a Chinese hamster ovary cell line. The enzyme is a homotetramer consisted of 4. Defective enzyme activity leading to the different types of mucopolysaccharidosis (MPS) is indicated in blue. Note that the degradation pathway of chondroitin sulphates, being similar to that of DS, is not shown. Full size image. Table 1 Classification and major characteristics of the mucopolysaccharidoses (MPS

Ocular features in mucopolysaccharidosis: diagnosis and

The global Mucopolysaccharidosis Treatment Market is predicted to reach USD 4.37 billion by 2026, exhibiting a CAGR of 10.4% during the forecast period. The growing cases of rare diseases can be critical factor in fuelling the demand for mucopolysaccharidosis treatment, which in turn, will aid the expansion of the market. Moreover, the increasing R&D investments [ Mucopolysaccharidosis type II detection by Naïve Bayes Classifier: An example of patient classification for a rare disease using electronic medical records from the Canadian Primary Care Sentinel Surveillance Network The Morquio disease or mucopolysaccharidosis IVA (MPS-IVA: OMIM #253000) is a rare autosomal recessive disease, classified in the group of metabolism inborn errors. The glycosaminoglycans accumulation in chondrocytes disturbs bone growth and leads to skeletal manifestations, such as skeletal dysplasia and short stature, while the disproportionate growth of trachea may lead to airway.

Mucopolysaccharidosis - SlideShar

Mucopolysaccharidosis 2 Add Mucopolysaccharidosis II Add Mucopolysaccharidosis Type 2 Add Mucopolysaccharidosis Type II Add Sulfoiduronate Sulfatase Deficiency Add Pharm Action Registry Number CAS Type 1 Name NLM Classification # Previous Indexing Mucopolysaccharidosis I (1966-1991) See Als Morquio syndrome (mucopolysaccharidosis type IV) is a member of a group of inherited metabolic disorders collectively termed mucopolysaccharidoses (MPSs). The MPSs are caused by a deficiency of lysosomal enzymes required for the degradation of mucopolysaccharides or glycosaminoglycans (GAGs) The National Library of Medicine (NLM), on the NIH campus in Bethesda, Maryland, is the world's largest biomedical library and the developer of electronic information services that delivers data to millions of scientists, health professionals and members of the public around the globe, every day The global Mucopolysaccharidosis Treatment Market is predicted to reach USD 4.37 billion by 2026, exhibiting a CAGR of 10.4% during the forecast period. The growing cases of rare diseases can be critical factor in fuelling the demand for mucopolysaccharidosis treatment, which in turn, will aid the expansion of the market

Laronidase is a glycoprotein with a molecular weight of approximately 83 kD. The predicted amino acid sequence of the recombinant form, as well as the nucleotide sequence that encodes it, are identical to a polymorphic form of human a-L-iduronidase. It contains 6 N-linked oligosaccharide modification sites. Type. Biotech Galsulfase is a recombinant human enzyme used as replacement enzyme therapy for the treatment of of adults and children with Mucopolysaccharidosis VI, a rare genetic disorder caused by a deficiency of a lysosomal enzyme. Galsufase is a variant form of the polymorphic human enzyme N-acetylgalactosamine 4-sulfatase of recombinant DNA origin The classification still depends primarily on clinical and electroencephalography mucopolysaccharidosis, mucolipidosis, or congenital disorders of glycosylation. Metabolomic testing is available through several laboratories. Interpretation of the results requires a skilled biochemist. Currently, we do not know with certainty whether. Introduction. The normal sequence of development of hair form and pattern varies widely in childhood and adolescence. One of the major categories of abnormal hair growth patterning is hypertrichosis, defined as the growth of hair (lanugo/vellus/ terminal) on any part of the body in excess of the amount that is normally present in persons of the same age, race and sex and excluding androgen.

Mucopolysaccharidosis Type I - NORD (National Organization

  1. ed from abstracts and full-text documents matching text Search across indexed text content in Pure, such as names, titles, descriptions etc
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  3. Mucopolysaccharidoses Types I-VII: Background
  4. Capturing phenotypic heterogeneity in MPS I: results of an
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