Hurler syndrome
A Characteristic Bone Marrow Finding in the Hurler Syndrome
... A Characteristic Bone Marrow Finding in the Hurler Syndrome. Services[r] ...
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Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
... of Hurler syndrome which was further confirmed with biological analysis by demonstrating a high excretion of GAGs in the urine and a deficiency in α-L-iduronidase activity in ...
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Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome
... Background: Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system ...
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Study of the Hurler syndrome using cell culture: definition of the biochemical phenotype and the effect of ascorbic acid on the mutant cell
... with Hurler syndrome retain a distinctive biochemical phenotype when grown in culture which is characterized by increased synthesis of both nonsulfated and sulfated ...
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Laronidase for Cardiopulmonary Disease in Hurler Syndrome 12 Years After Bone Marrow Transplantation
... (Hurler syndrome) with on- set in infancy and eventual loss of cog- nition to more attenuated phenotypes (Hurler-Scheie syndrome and Scheie ...
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Early disease progression of Hurler syndrome
... The implementation of NBS for this disorder shows promise to minimize diagnostic delays. Nonetheless, the clinical management of screen-positive infants will likely pose a number of challenges. The high prevalence of ...
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A Case Report of Mucopolysaccharidosis Type 1 (MPS I H - Hurler Syndrome)
... Hurler disease is a severe, progressive disorder with multiple organ and tissue involvement that results in premature death usually within 1st decade if left untreated as a result of cardio respiratory failure and ...
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Precocious initiation of spermatogenesis in a 19-month-old boy with Hurler syndrome
... Hurler syndrome (HS), or mucopolysaccharidosis type IH (MPS IH), is a rare autosomal recessive lysosomal storage disorder, due to α-L-iduronidase activity defi- ciency, enzyme required for the breakdown of ...
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Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
... in Hurler syndrome, as stabilization or even improvement in the joint mobility of elbows, hips and knees was found in the majority of transplanted Hurler ...
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Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome
... The IDUA KO mouse model of Hurler syndrome was generated by replacing a part of the IDUA gene located on chromosome 5 (NC_0000701.5) in mice with the neomycin resistance gene. OSDupDel.Neo vector was used ...
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Gross motor and gait abilities of children with Hurler syndrome, pre and post umbilical cord blood transplant
... with Hurler syndrome who received UCBT between ...with Hurler syndrome post-UCBT may or may not have similar gait ...with Hurler syndrome post BMT and may also be present post ...
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Open issues in Mucopolysaccharidosis type I-Hurler
... It is well established that the sooner HSCT is per- formed, the better the chances are of a positive outcome [8, 9, 19]. A recent international, multicenter, retrospect- ive analysis on transplantation-related predictors ...
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Current and emerging management options for patients with Morquio A syndrome
... on Hurler syndrome are well established, HSCT for the treatment of other MPSs, particu- larly the effect on the neurologic deficits, has yet to be fully ...Hunter syndrome, HSCT demonstrated ...
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Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human α-l-Iduronidase (Laronidase)
... had Hurler syndrome and were younger than ...with Hurler- Scheie syndrome showed the steepest slope of develop- ment, which was similar to that of normal age-matched ...had Hurler ...
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Mucopolysaccharidoses: early diagnostic signs in infants and children
... (Hurler syndrome) which has the most precocious severe ...I Hurler syndrome infants develop cognitive delay while an MPS II patient might be identified only because of over- growth, frequent ...
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The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK
... of Hurler syndrome is highest and Sheie the ...Hurler's syndrome, with median survival of ...Sheie syndrome relative to Hurler-Sheie syndrome and all MPS I ...the ...
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Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population
... the Hurler syndrome is charac- terized by retardation of physical and mental develop- ment, cornea clouding, dysostosis multiplex, joint stiffness, cardiovascular involvement, respiratory pro- blems, and ...
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Comorbidity of the Metabolic Syndrome: Hyperuricemia, Gallstone Disease, Hormonal Disorders
... component. And some studies concluded that GSD might be a component of MetS [26, 6, 43] although it needs to be validated by more evidences. According to other authors MetS is strongly connected with GSD and the more the ...
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Oculocutaneous albinism
... Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies ...
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STUDIES ON METABOLIC SYNDROME AND ITS MANAGEMENT WITH LIFE STYLE MODIFICATION, IN NON DIABETIC INDIVIDUALS
... Metabolic syndrome accounts for clustering of numerous risk factors that contributes towards 5 fold increased risk for diabetes mellitus and 2-fold increased risk for coronary artery ...metabolic syndrome ...
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