Works matching DE "MUCOPOLYSACCHARIDOSIS II"

Results: 114

Isokinetic muscle strength differences in patients with mucopolysaccharidosis I, II, and VI.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2014, v. 7, n. 4, p. 353, doi. 10.3233/PRM-140305

By:

Taylor, Natalie E.;
Dengel, Donald R.;
Lund, Troy C.;
Rudser, Kyle D.;
Orchard, Paul J.;
Steinberger, Julia;
Whitley, Chester B.;
Polgreen, Lynda E.

Publication type:

Article

A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 71, doi. 10.3390/ijns10040071

By:

Ayodele, Olulade;
Fertek, Daniel;
Evuarherhe, Obaro;
Siffel, Csaba;
Audi, Jennifer;
Yee, Karen S.;
Burton, Barbara K.

Publication type:

Article

Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 32, doi. 10.3390/ijns9020032

By:

Courtney, Elya;
Pickens, C. Austin;
Cuthbert, Carla;
Petritis, Konstantinos

Publication type:

Article

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 20, doi. 10.3390/ijns9020020

By:

Singh, Sikha;
Ojodu, Jelili;
Kemper, Alex R.;
Lam, Wendy K. K.;
Grosse, Scott D.

Publication type:

Article

Addition of MPS-II to the Recommended Uniform Screening Panel in the United States.

Published in:

2022

By:

Millington, David S.;
Ficicioglu, Can

Publication type:

Editorial

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 9, doi. 10.3390/ijns8010009

By:

Herbst, Zackary M.;
Urdaneta, Leslie;
Klein, Terri;
Burton, Barbara K.;
Basheeruddin, Khaja;
Liao, Hsuan-Chieh;
Fuller, Maria;
Gelb, Michael H.

Publication type:

Article

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 7, p. 965, doi. 10.1007/s00431-013-1967-x

By:

Cohn, Gabriel;
Morin, Isabelle;
Whiteman, David

Publication type:

Article

Early childhood onset of high-grade atrioventricular block in Hunter syndrome.

Published in:

2018

By:

Chlebowski, Meghan M.;
Malloy-Walton, Lindsey E.;
Heese, Bryce A.

Publication type:

journal article

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.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209018

By:

Ehsani-Moghaddam, Behrouz;
Queenan, John A.;
MacKenzie, Jennifer;
Birtwhistle, Richard V.

Publication type:

Article

Mucopolysaccharidosis type III ( Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.

Published in:

Acta Paediatrica, 2013, v. 102, n. 5, p. 462, doi. 10.1111/apa.12169

By:

Wijburg, Frits A;
Węgrzyn, Grzegorz;
Burton, Barbara K;
Tylki‐Szymańska, Anna

Publication type:

Article

Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up.

Published in:

Acta Paediatrica, 2012, v. 101, n. 1, p. e42, doi. 10.1111/j.1651-2227.2011.02385.x

By:

Tylki- Szymanska, A;
Jurecka, A;
Zuber, Z;
Rozdzynska, A;
Marucha, J;
Czartoryska, B

Publication type:

Article

A RARE CASE OF HUNTER SYNDROME -CASE REPORT.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 1, p. 38, doi. 10.37897/rjp.2015.1.8

By:

Melit, Lorena Elena;
Marginean, Oana;
Duicu, Carmen;
Campean, Cristina;
Marginean, Maria Oana

Publication type:

Article

Epidemiology of Sanfilippo syndrome: results of a systematic literature review.

Published in:

2018

By:

Zelei, Tamás;
Csetneki, Kata;
Vokó, Zoltán;
Siffel, Csaba

Publication type:

journal article

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).

Published in:

2017

By:

Muenzer, Joseph;
Giugliani, Roberto;
Scarpa, Maurizio;
Tylki-Szymańska, Anna;
Jego, Virginie;
Beck, Michael

Publication type:

journal article

Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

2018

By:

Suzuki, Kazuchika;
Sakai, Hiroaki;
Takahashi, Kenji

Publication type:

Case Study

Successful Idursulfase Desensitization Experience in a Pediatric Patient.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2022, v. 20, n. 1, p. 68, doi. 10.21911/aai.667

By:

ŞENGÜL EMEKSIZ, Zeynep;
BÜYÜK YAYTOKGIL, Şule;
KÜLHAŞ ÇELIK, Ilknur;
KASAPKARA, Çiğdem;
DIBEK MISIRLIOĞLU, Emine

Publication type:

Article

Ultrasonographic evaluation of the median nerve at the level of the carpal tunnel outlet and mid forearm in patients with type II Mucopolysaccharidosis.

Published in:

2016

By:

Bocsa, Corina;
Asavoaie, Carmen;
Bucerzan, Simona;
Nascu, Ioana;
Brumboiu, Irina;
Al-Khzouz, Camelia

Publication type:

journal article

The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085074

By:

Żuber, Zbigniew;
Różdżyńska-Świątkowska, Agnieszka;
Jurecka, Agnieszka;
Tylki-Szymańska, Anna

Publication type:

Article

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022951

By:

Huiwen Zhang;
Jing Li;
Xinshun Zhang;
Yu Wang;
Wenjuan Qiu;
Jun Ye;
Lianshu Han;
Xiaolan Gao;
Xuefan Gu

Publication type:

Article

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

Published in:

2017

By:

Vollebregt, Audrey A M;
Hoogeveen‐Westerveld, Marianne;
Kroos, Marian A;
Oussoren, Esmee;
Plug, Iris;
Ruijter, George J;
van der Ploeg, Ans T;
Pijnappel, W W M Pim

Publication type:

journal article

Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.

Published in:

Italian Journal of Pediatrics, 2013, v. 39, n. 1, p. 53, doi. 10.1186/1824-7288-39-53

By:

Ceravolo, Ferdinando;
Mascaro, Italia;
Sestito, Simona;
Pascale, Elisa;
Lauricella, Antonino;
Dizione, Elio;
Concolino, Daniela

Publication type:

Article

Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report.

Published in:

2018

By:

Horn, František;
Petrík, Michal;
Dúbravová, Dana;
Hornová, Jarmila;
Brennerová, Katrína;
Bzduch, Vladimír

Publication type:

Case Study

Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire.

Published in:

Journal of Patient-Reported Outcomes, 2019, v. 3, n. 1, p. N.PAG, doi. 10.1186/s41687-019-0140-3

By:

Harrington, Magdalena;
Hareendran, Asha;
Skalicky, Anne;
Wilson, Hilary;
Clark, Marci;
Mikl, Jaromir

Publication type:

Article

COVID-19 in a 16-Year-Old Adolescent With Mucopolysaccharidosis Type II: Case Report and Review of Literature.

Published in:

Pediatric Infection & Vaccine, 2022, v. 29, n. 2, p. 70, doi. 10.14776/piv.2022.29.e7

By:

So Yun Park;
Heung Sik Kim;
Mi Ae Chu;
Myeong-Hee Chung;
Seokjin Kang

Publication type:

Article

Bone metabolism in patients with mucopolysaccharidosis type II.

Published in:

Rheumatology / Reumatologia, 2014, v. 52, n. 6, p. 354, doi. 10.5114/reum.2014.47228

By:

Żuber, Zbigniew;
Jurecka, Agnieszka;
Król-Zdechlikiewicz, Anna;
Różdżyńska-Świątkowska, Agnieszka;
Tylki-Szymańska, Anna

Publication type:

Article

Growth and Related Treatment Factors in Mucopolysaccharidoses Type I and II: A Systematic Review.

Published in:

Journal of Pediatrics Review, 2023, v. 11, n. 4, p. 301, doi. 10.32598/jpr.11.4.512.4

By:

Tabatabayipoor, Seyed Ebrahim;
Rostampour, Noushin;
Hovsepian, Silva;
Raispour, Homyra;
Hashemipour, Reza;
Khachikian, Arvin;
Hashemipour, Mahin

Publication type:

Article

Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.

Published in:

Experimental & Therapeutic Medicine, 2017, v. 13, n. 6, p. 2989, doi. 10.3892/etm.2017.4303

By:

LUKANA NGIWSARA;
KITIWAN ROJNUEANGNIT;
DUANGRURDEE WATTANASIRICHAIGOON;
THIPWIMOL TIM-AROON;
PHANNEE SAWANGAREETRAKUL;
VORARATT CHAMPATTANACHAI;
KETUDAT-CAIRNS, JAMES R.;
JISNUSON SVASTI

Publication type:

Article

High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 11, p. 728, doi. 10.1038/jhg.2013.92

By:

Ahn, So Yoon;
Chang, Yun Sil;
Sung, Dong Kyung;
Ko, Ah-ra;
Kim, Chi Hwa;
Yoo, Dong Kyeom;
Lim, Keun Ho;
Sohn, Young Bae;
Jin, Dong Kyu;
Park, Won Soon

Publication type:

Article

A Rare Case of Mucopolysaccharidosis: Hunter Syndrome.

Published in:

2015

By:

Anekar, Jayaprasad;
C., Deepa Narayanan;
A. C., Raj;
N. C., Sandeepa;
Nappalli, Deepika

Publication type:

Case Study

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 787, doi. 10.1111/cge.12927

By:

Dvorakova, L.;
Vlaskova, H.;
Sarajlija, A.;
Ramadza, D. P.;
Poupetova, H.;
Hruba, E.;
Hlavata, A.;
Bzduch, V.;
Peskova, K.;
Storkanova, G.;
Kecman, B.;
Djordjevic, M.;
Baric, I.;
Fumic, K.;
Barisic, I.;
Reboun, M.;
Kulhanek, J.;
Zeman, J.;
Magner, M.

Publication type:

Article

Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 574, doi. 10.1111/cge.12738

By:

Alcántara‐Ortigoza, M.A.;
García‐de Teresa, B.;
González‐del Angel, A.;
Berumen, J.;
Guardado‐Estrada, M.;
Fernández‐Hernández, L.;
Navarrete‐Martínez, J.I.;
Maza‐Morales, M.;
Rius‐Domínguez, R.

Publication type:

Article

Corrigendum.

Published in:: 2012
Publication type:: Erratum

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.

Published in:

Clinical Genetics, 2012, v. 81, n. 2, p. 185, doi. 10.1111/j.1399-0004.2011.01641.x

By:

Sohn, YB;
Ki, C-S;
Kim, C-H;
Ko, A-R;
Yook, Y-J;
Lee, S-J;
Kim, SJ;
Park, SW;
Yeau, S;
Kwon, E-K;
Han, SJ;
Choi, EW;
Lee, S-Y;
Kim, J-W;
Jin, D-K

Publication type:

Article

A retrospective comparison of propofol to dexmedetomidine for pediatric magnetic resonance imaging sedation in patients with mucopolysaccharidosis type II.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 12, p. 1116, doi. 10.1111/pan.13514

By:

Kang, RyungA;
Shin, Young Hee;
Gil, Nam‐Su;
Oh, Ye Na;
Hahm, Tae Soo;
Jeong, Ji Seon

Publication type:

Article

Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign.

Published in:

Journal of Pediatric Research, 2021, v. 8, n. 2, p. 206, doi. 10.4274/jpr.galenos.2020.82621

By:

İnan, Ayşe Hitay;
Yılmaz, Berna Şeker;
Bulut, Fatma Derya;
Kılavuz, Sebile;
Kor, Deniz;
Karakaş, Mehmet;
Mungan, Halise Neslihan Önenli

Publication type:

Article

Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 34, doi. 10.4274/jpr.36025

By:

Yazıcı, Havva;
Canda, Ebru;
Er, Esra;
Uçar, Sema Kalkan;
Onay, Hüseyin;
Özkınay, Ferda;
Çoker, Mahmut

Publication type:

Article

Mucopolysaccharidosis II with neonatal respiratory distress syndrome and bronchopulmonary dysplasia.

Published in:

2023

By:

Kimoto, Goh;
Kakiuchi, Satsuki;
Tanaka, Hiroyuki;
Shitara, Yoshihiko;
Kashima, Kohei;
Kato, Motohiro;
Takahashi, Naoto

Publication type:

Case Study

Clinical assessment of upper airway and its complications in Hunter syndrome.

Published in:

Pediatrics International, 2021, v. 63, n. 5, p. 543, doi. 10.1111/ped.14467

By:

Iijima, Masatoshi;
Hirano, Daishi;
Yokoi, Kentaro;
Kobayashi, Hiroshi;
Fujiwara, Masako;
Ida, Hiroyuki;
Oishi, Kimihiko

Publication type:

Article

Hunter's syndrome and the airway: Implications for the anesthesiologist - A correspondence.

Published in:

2017

By:

Chatterjee, Nilay;
Davis, Josemine;
Ganesamoorthi, Arimanickam

Publication type:

Letter to the Editor

Avaliação do desempenho motor em crianças com mucopolissacaridose II<sup>1</sup>.

Published in:

Cadernos de Terapia Ocupacional da UFSCar, 2012, v. 20, n. 3, p. 403, doi. 10.4322/cto.2012.040

By:

de Medeiros Rocha, Julie Souza;
Bonorandi, Alessandra Dounis;
de Oliveira, Leilane Silva;
da Silva, Maria Natália Santos;
da Silva, Viviane Ferreira

Publication type:

Article

Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172435

By:

Gleitz, Hélène F. E.;
O’Leary, Claire;
Holley, Rebecca J.;
Bigger, Brian W.

Publication type:

Article

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

Published in:

2017

By:

Ghosh, Arunabha;
Shapiro, Elsa;
Rust, Stewart;
Delaney, Kathleen;
Parker, Samantha;
Shaywitz, Adam J.;
Morte, Adelaida;
Bubb, Gillian;
Cleary, Maureen;
Tien Bo;
Lavery, Christine;
Bigger, Brian W.;
Jones, Simon A.;
Bo, Tien

Publication type:

journal article

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

Published in:

2017

By:

Muenzer, Joseph;
Jones, Simon A.;
Tylki-Szymańska, Anna;
Harmatz, Paul;
Mendelsohn, Nancy J.;
Guffon, Nathalie;
Giugliani, Roberto;
Burton, Barbara K.;
Scarpa, Maurizio;
Beck, Michael;
Jangelind, Yvonne;
Hernberg-Stahl, Elizabeth;
Paabøl Larsen, Maria;
Pulles, Tom;
Whiteman, David A. H.;
Larsen, Maria Paabøl

Publication type:

journal article

Multi-criteria decision analysis (MCDA): testing a proposed MCDA framework for orphan drugs.

Published in:

2017

By:

Schey, C.;
Krabbe, P. F. M.;
Postma, M. J.;
Connolly, M. P.

Publication type:

journal article

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.

Published in:

2017

By:

Chiong, Mary Anne D.;
Canson, Daffodil M.;
Abacan, Mary Ann R.;
Baluyot, Melissa Mae P.;
Cordero, Cynthia P.;
Silao, Catherine Lynn T.

Publication type:

journal article

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

Published in:

2016

By:

Hsiang-Yu Lin;
Chih-Kuang Chuang;
Yu-Hsiu Huang;
Ru-Yi Tu;
Fang-Ju Lin;
Shio Jean Lin;
Pao Chin Chiu;
Dau-Ming Niu;
Fuu-Jen Tsai;
Wuh-Liang Hwu;
Yin-Hsiu Chien;
Ju-Li Lin;
Yen-Yin Chou;
Wen-Hui Tsai;
Tung-Ming Chang;
Shuan-Pei Lin;
Lin, Hsiang-Yu;
Chuang, Chih-Kuang;
Huang, Yu-Hsiu;
Tu, Ru-Yi

Publication type:

journal article

Impact of orphan drugs on Latvian budget.

Published in:

2016

By:

Logviss, Konstantins;
Krievins, Dainis;
Purvina, Santa

Publication type:

journal article

Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis.

Published in:

2016

By:

Rutten, M.;
Ciet, P.;
van den Biggelaar, R.;
Oussoren, E.;
Langendonk, J. G.;
van der Ploeg, A. T.;
Langeveld, M.

Publication type:

journal article

Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome).

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0265-2

By:

Pano, Arian;
Barbier, Ann J;
Bielefeld, Bonnie;
Whiteman, David A. H.;
Amato, David A.

Publication type:

Article

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0259-0

By:

Guffon, Nathalie;
Heron, Bénédicte;
Chabrol, Brigitte;
Feillet, François;
Montauban, Vincent;
Valayannopoulos, Vassili

Publication type:

Article