第六型黏多糖贮积症（马罗托-拉米综合征）。I. 组织中硫酸酯酶B缺乏。 - Suppr

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Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.

作者信息

Stumpf D A, Austin J H, Crocker A C, LaFrance M

出版信息

Am J Dis Child. 1973 Dec;126(6):747-55. doi: 10.1001/archpedi.1973.02110190597003.

DOI:10.1001/archpedi.1973.02110190597003

PMID:4271367

Abstract

摘要

相似文献

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.

Am J Dis Child. 1973 Dec;126(6):747-55. doi: 10.1001/archpedi.1973.02110190597003.

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.

Biochem Biophys Res Commun. 1974 Jul 24;59(2):455-61. doi: 10.1016/s0006-291x(74)80001-x.

Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharidosis and cystinosis.

Z Kinderheilkd. 1971;110(4):324-31. doi: 10.1007/BF00440191.

Sanfilippo syndrome (mucopolysaccharidosis 3).

Indian J Med Res. 1970 Aug;58(8):1073-8.

Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).

Am J Ophthalmol. 1970 Jun;69(6):969-75. doi: 10.1016/0002-9394(70)91040-8.

Acid hydrolases in the serum and liver in mucopolysaccharidoses types I and 3.

Clin Biochem. 1970 Sep;3(3):193-202.

[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency].

Arch Fr Pediatr. 1977 Apr;34(4):362-70.

Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency.

Clin Chim Acta. 1983 Apr;129(2):175-80. doi: 10.1016/0009-8981(83)90213-9.

A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI).

J Pediatr. 1972 Jan;80(1):114-6. doi: 10.1016/s0022-3476(72)80467-0.

Enzyme patterns in tissues and body fluids in mucopolysaccharidoses.

Clin Chim Acta. 1969 Jul;25(1):97-102. doi: 10.1016/0009-8981(69)90233-2.

引用本文的文献

Mucopolysaccharidosis Type VI with Recurrent Chest Infection.

Cureus. 2023 Feb 20;15(2):e35229. doi: 10.7759/cureus.35229. eCollection 2023 Feb.

Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases.

Int J Mol Sci. 2022 Oct 29;23(21):13146. doi: 10.3390/ijms232113146.

A Generic Assay to Detect Aberrant Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.

Mol Ther Methods Clin Dev. 2020 Sep 16;19:174-185. doi: 10.1016/j.omtm.2020.09.004. eCollection 2020 Dec 11.

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

J Inherit Metab Dis. 2016 Mar;39(2):285-92. doi: 10.1007/s10545-015-9895-8. Epub 2015 Oct 8.

Anesthetic management of a child with Maroteau-Lamy syndrome.

J Anesth. 1992 Jul;6(3):344-8. doi: 10.1007/s0054020060344.

Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.

Am J Hum Genet. 1996 Jun;58(6):1127-34.

Comparative biochemistry of murine arylsulfatase B.

Biochem Genet. 1980 Aug;18(7-8):625-42. doi: 10.1007/BF00484581.

Murine liver arylsulfatase B processing influenced by region on chromosome 17.

Biochem Genet. 1981 Apr;19(3-4):211-25. doi: 10.1007/BF00504268.

Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association.

J Clin Invest. 1982 Feb;69(2):294-302. doi: 10.1172/jci110452.

Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.

Am J Hum Genet. 1981 Nov;33(6):916-27.

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Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.

作者信息

Stumpf D A, Austin J H, Crocker A C, LaFrance M

出版信息

Am J Dis Child. 1973 Dec;126(6):747-55. doi: 10.1001/archpedi.1973.02110190597003.

DOI:10.1001/archpedi.1973.02110190597003

PMID:4271367

Abstract

摘要

相似文献

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.

Am J Dis Child. 1973 Dec;126(6):747-55. doi: 10.1001/archpedi.1973.02110190597003.

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.

Biochem Biophys Res Commun. 1974 Jul 24;59(2):455-61. doi: 10.1016/s0006-291x(74)80001-x.

Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharidosis and cystinosis.

Z Kinderheilkd. 1971;110(4):324-31. doi: 10.1007/BF00440191.

Sanfilippo syndrome (mucopolysaccharidosis 3).

Indian J Med Res. 1970 Aug;58(8):1073-8.

Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).

Am J Ophthalmol. 1970 Jun;69(6):969-75. doi: 10.1016/0002-9394(70)91040-8.

Acid hydrolases in the serum and liver in mucopolysaccharidoses types I and 3.

Clin Biochem. 1970 Sep;3(3):193-202.

[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency].

Arch Fr Pediatr. 1977 Apr;34(4):362-70.

Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency.

Clin Chim Acta. 1983 Apr;129(2):175-80. doi: 10.1016/0009-8981(83)90213-9.

A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI).

J Pediatr. 1972 Jan;80(1):114-6. doi: 10.1016/s0022-3476(72)80467-0.

Enzyme patterns in tissues and body fluids in mucopolysaccharidoses.

Clin Chim Acta. 1969 Jul;25(1):97-102. doi: 10.1016/0009-8981(69)90233-2.

引用本文的文献

Mucopolysaccharidosis Type VI with Recurrent Chest Infection.

Cureus. 2023 Feb 20;15(2):e35229. doi: 10.7759/cureus.35229. eCollection 2023 Feb.

Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases.

Int J Mol Sci. 2022 Oct 29;23(21):13146. doi: 10.3390/ijms232113146.

A Generic Assay to Detect Aberrant Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.

Mol Ther Methods Clin Dev. 2020 Sep 16;19:174-185. doi: 10.1016/j.omtm.2020.09.004. eCollection 2020 Dec 11.

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

J Inherit Metab Dis. 2016 Mar;39(2):285-92. doi: 10.1007/s10545-015-9895-8. Epub 2015 Oct 8.

Anesthetic management of a child with Maroteau-Lamy syndrome.

J Anesth. 1992 Jul;6(3):344-8. doi: 10.1007/s0054020060344.

Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.

Am J Hum Genet. 1996 Jun;58(6):1127-34.

Comparative biochemistry of murine arylsulfatase B.

Biochem Genet. 1980 Aug;18(7-8):625-42. doi: 10.1007/BF00484581.

Murine liver arylsulfatase B processing influenced by region on chromosome 17.

Biochem Genet. 1981 Apr;19(3-4):211-25. doi: 10.1007/BF00504268.

Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association.

J Clin Invest. 1982 Feb;69(2):294-302. doi: 10.1172/jci110452.

Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.

Am J Hum Genet. 1981 Nov;33(6):916-27.