Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
about
Enzyme replacement therapy with laronidase (Aldurazyme ® ) for treating mucopolysaccharidosis type IRegulation of lysosomal ion homeostasis by channels and transportersMucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activityFucosidosis: genetic and biochemical analysis of eight cases.Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.Alpha-L-iduronidase and enzyme replacement therapy for mucopolysaccharidosis I.Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients.Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.Effects of neonatal enzyme replacement therapy and simvastatin treatment on cervical spine disease in mucopolysaccharidosis I dogs.Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patientsCan mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres.Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report.A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I.Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.Carbohydrate structures of recombinant human alpha-L-iduronidase secreted by Chinese hamster ovary cells.Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and ValidityMucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children.Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.Overview of the mucopolysaccharidoses.alpha-L-iduronidase therapy for mucopolysaccharidosis type I.Intranasal Adeno-Associated Virus Mediated Gene Delivery and Expression of Human Iduronidase in the Central Nervous System: A Noninvasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I.Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs.Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sistersCrystallization, X-ray diffraction analysis and SIRAS phasing of human α-L-iduronidase.In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors.Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler).p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha-L-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I.Mucopolysaccharidosis type I disguised as rickets.IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study.Pre-transplant risk factors affecting outcome in Hurler syndrome.Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
P2860
Q24234101-27EC4CC6-1002-4593-9483-EA5FD944BC60Q28069327-6B6C1621-6AEB-4186-85DA-F3E0017870FFQ28609226-7AECE334-8152-4E4E-8BC1-2BD1F3D4FF09Q33678382-6422AAEF-140D-4A31-A4F7-6D756E7135E1Q33679767-D1B1785E-9F2A-423E-84E6-DF621C4E3CABQ33796851-CDA0E28E-B850-4B7A-979E-B13D201215C7Q33892206-6A3BA39F-D584-41ED-BAF4-46CEC95B8F73Q33963579-9F01C12A-D502-46E6-B7A2-6FF8453C164BQ34286189-475F3B6C-7F2B-4021-B7CB-C30ECAF5AA96Q34415472-53E6DAE0-E22D-49DA-83F0-E49C2497CA40Q34633305-8D3284EB-E44D-4A2B-90A2-EAD6482428F4Q35031224-FA53ABF8-DE0F-43FF-A27F-A48D399A7A0AQ35102698-6E377353-17A2-4532-8018-F43D203FAD73Q35179027-37140B90-2C3D-4566-9734-E0A26DCA6B0CQ35254540-6B4E034C-2B2D-4A8D-AB85-B8E68AE6C505Q35561741-6E1CEA0D-48F0-468C-8539-8A869561C717Q35665076-8D1D4767-3DDC-457D-BBA2-140E74E89196Q36103270-1A675F0E-EB97-491D-BB4B-4CBC1B945C66Q36879990-A316E56C-5B6B-42C1-A27F-3B5C7ABA8F47Q36894699-77A304E8-6095-4CCE-927B-FC0E396C3F6CQ37089858-A3CA94EF-228B-4CA9-99C9-D6CE8F7D42C5Q37480537-9B367E4C-40C8-4782-8D41-D5148467E42BQ37612506-E49B66EE-B036-4C98-9E55-5875A1E85E56Q37972589-E3C52E09-3A2F-4946-8B8B-E550E73A70D1Q39952328-40673F32-B841-4B47-9C05-3C359CFF2BADQ40219437-513BA250-38EE-460A-9E8D-0CC688905A69Q41273646-187D18BC-893F-41B3-9926-96B0688EFA44Q41857836-A0656B8B-6A5A-4A86-B9BD-C858664AA848Q41941774-73AF742D-5D55-451D-9B24-30143B99CBEAQ41999896-10B33414-AF16-48E8-BA84-2B70C1D42130Q44016335-2118DB05-69BD-4C17-A10E-37D599D2136BQ45174143-70711277-E3AC-49C0-893C-AA11718504DAQ47240843-513BA4BB-2627-44DC-96E1-B1B9E905ABA8Q47422668-27E24BD1-9DB9-4D08-BCDB-A2CD1A7E0580Q48025547-6D67BDA5-3003-4AE0-85F8-91183D15DD3BQ48331458-639E77A7-969A-4743-8626-C87D2189CA1EQ48415114-C985ED47-DD57-4B2C-96B0-D7B32A96D993Q48579880-0172990D-1E98-46DB-B8A3-9E5AB21B746EQ51800411-19142A48-14EF-4292-87C1-98C9EB2DB955Q54797177-D4380491-229A-4D85-B0D8-A8A529E74391
P2860
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Molecular genetics of mucopoly ...... , and biological implications.
@en
type
label
Molecular genetics of mucopoly ...... , and biological implications.
@en
prefLabel
Molecular genetics of mucopoly ...... , and biological implications.
@en
P2093
P2860
P50
P356
P1433
P1476
Molecular genetics of mucopoly ...... l, and biological implications
@en
P2093
P2860
P304
P356
10.1002/HUMU.1380060403
P577
1995-01-01T00:00:00Z