Results 101 to 110 of about 5,730 (195)

Human sulfatase transiently and functionally active expressed in E. coli K12 [PDF]

, 2011
The recombinant human iduronate 2-sulfate sulfatase (hrIDS) was transiently and functionally active expressed in E. coli K12. The enzyme activity (crude extract) at 100 ml and 400 ml oscillated between 0.25 and 10.58 nmol h-1 mg-1.
Niño, Adriana Vanegas, Poutou-Piñales, Raúl A., Landázuri, Patricia, Lareo, Leonardo, Sáenz, Homero, Avellaneda, Luis A. Barrera, Peña, Olga Yaneth Echeverri   +6 more
core  

HUNTER SYNDROME : REPORT OF A SEVERE AND A MILD CASE

, 1990
Hunter syndrome is one of several types of mucopolysaccharidosis and is inherited in an X-linked recessive manner. Severity of Hunter syndrome is distinguished by the degree of intellectual impairment and prognosis.
大久保, 芳明, 吉岡, 章, 吉田, 裕慈, 平, 康二, 寺田, 茂紀, 碇, 久雄   +5 more
core   +1 more source

Iduronate-sulfatase (Caractérisation des transcrits majoritaires, Mécanismes moléculaires à l'origine de la maladie de Hunter chez deux sujets féminins)

, 2000
La maladie de Hunter, ou Mucopolysaccharidose de type II (MPSII) est une maladie lysosomale récessive liée à l'X due au déficit en iduronate sulfatase (IDS).
CUDRY, Stéphane, MAIRE, Irène
core  

Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study. [PDF]

Mol Genet Metab Rep
Donti TR, DiPerna JC, Hegde MR, Revvity Omics, Inc.   +4 more
europepmc   +1 more source

Revealing the role of a novel <i>IDS</i> gene mutation in mucpolysaccharidosis type II: insights from computational analysis. [PDF]

Front Mol Biosci
Huang S, Li C, Zhi Y, Su Z, Ma F, Shi C, Li S.   +6 more
europepmc   +1 more source

Human sulfatase transiently and functionally active expressed in E. coli K12

, 2017
The recombinant human iduronate 2-sulfate sulfatase (hrIDS) was transiently and functionally active expressed in E. coli K12. The enzyme activity (crude extract) at 100 ml and 400 ml oscillated between 0.25 and 10.58 nmol h-1 mg-1.
Poutou Piñales, Raúl A., Vanegas Niño, Adriana, Landázuri, Patricia, Lareo, Leonardo, Sáenz, Homero, Barrera Avellaneda, Luis A., Echeverri Peña, Olga Yaneth   +6 more
core  

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene. [PDF]

Hum Mol Genet
Viswanathan A, Elia S, Le SQ, Hurt S, Doray B, Waligorski J, Kelley K, Buchser W, Dickson P.   +8 more
europepmc   +1 more source

A ZEBRATISH IDURONATE-2-SULFATASE CANDIDATE ORTHOLOGUE IS STRONGLY EXPRESSED DURING EARLY EMBRYONIC DEVELOPMENT

, 2009
Introduction and hypothesis: Iduronate-2-sulfatase (IDS) is a lysosomal enzyme responsible for the removal of the 2-sulfate group from dermatan and heparan sulfate.
ARGENTON, FRANCESCO, MODENA N, FRISO A, BORTOLUSSI M, SCARPA, MAURIZIO, MORO, ENRICO, TOMANIN R   +6 more
core  

A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options. [PDF]

Genet Med
Kucera KS, Clinard K, Blake SL, Copeland VR, Migliore B, Torrice L, Carter JK, Apoian JN, Tober KA, Thorp E, Gehtland LM, Shone SM, Jalazo ER, Bali D, Young SP, Rehder CW, Raspa M, Muenzer J.   +17 more
europepmc   +1 more source