Works matching DE "MAROTEAUX-Lamy syndrome"

Results: 29

Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome).

Published in:

2018

By:

Karir, Aneesh;
Geraghty, Michael;
Vassilyadi, Michael;
Doja, Asif

Publication type:

Case Study

The phalangeal microgeodic syndrome in childhood: awareness leads to diagnosis.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 6, p. 763, doi. 10.1007/s00431-013-1953-3

By:

Ackere, T.;
Eykens, A.;
Wouters, C.;
Toelen, J.

Publication type:

Article

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 245, doi. 10.2147/TACG.S68650

By:

Vairo, Filippo;
Federhen, Andressa;
Baldo, Guilherme;
Riegel, Mariluce;
Burin, Maira;
Leistner-Segal, Sandra;
Giugliani, Roberto

Publication type:

Article

DIAGNOSTYKA I POSTĘPOWANIE TERAPEUTYCZNE U DZIECI Z MUKOPOLISACHARYDOZĄ TYPU VI.

Published in:

Przeglad Pediatryczny, 2012, v. 42, n. 3, p. 149

By:

Jurecka, Agnieszka;
Opoka-Winiarska, Violetta;
Tylki-Szymańska, Anna

Publication type:

Article

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

Published in:

2019

By:

Akyol, Mehmet Umut;
Alden, Tord D.;
Amartino, Hernan;
Ashworth, Jane;
Belani, Kumar;
Berger, Kenneth I.;
Borgo, Andrea;
Braunlin, Elizabeth;
Eto, Yoshikatsu;
Gold, Jeffrey I.;
Jester, Andrea;
Jones, Simon A.;
Karsli, Cengiz;
Mackenzie, William;
Marinho, Diane Ruschel;
McFadyen, Andrew;
McGill, Jim;
Mitchell, John J.;
Muenzer, Joseph;
Okuyama, Torayuki

Publication type:

journal article

Non-sibling hematopoietic stem cell transplantation using myeloablative conditioning regimen in children with Maroteaux-Lamy syndrome: A brief report.

Published in:

Pediatric Transplantation, 2017, v. 21, n. 5, p. n/a, doi. 10.1111/petr.12981

By:

Behfar, Maryam;
Dehghani, S. Sharareh;
Rostami, Tahereh;
Ghavamzadeh, Ardeshir;
Hamidieh, Amir Ali

Publication type:

Article

Dose Responsive Effects of Subcutaneous Pentosan Polysulfate Injection in Mucopolysaccharidosis Type VI Rats and Comparison to Oral Treatment.

Published in:

PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100882

By:

Frohbergh, Michael;
Ge, Yi;
Meng, Fanli;
Karabul, Nesrin;
Solyom, Alexander;
Lai, Alon;
Iatridis, James;
Schuchman, Edward H.;
Simonaro, Calogera M.

Publication type:

Article

Illness Perception and Clinical Treatment Experiences in Patients with M. Maroteaux-Lamy (Mucopolysaccharidosis Type VI) and a Turkish Migration Background in Germany.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066804

By:

Dilger, Hansjörg;
Leissner, Linn;
Bosanska, Lenka;
Lampe, Christina;
Plöckinger, Ursula

Publication type:

Article

Another Novel Missense Mutation in ARSB Gene in Iran.

Published in:

Acta Medica Iranica, 2017, v. 55, n. 9, p. 585

By:

Abbasi, Samaneh;
Noruzinia, Mehrdad;
Bashti, Oranous;
Ahmadvand, Mohammad;
Salehi Chaleshtori, Ahmad Reza;
Mahootipou, Leila

Publication type:

Article

Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis.

Published in:

2015

By:

Pérez, Mayrim L.;
Kridel, Heather A.;
Gallagher, Alex;
Sheppard, Barbara J.;
Reese, Shona;
Kondo, Hirotaka;
Alleman, Rick;
Giger, Urs

Publication type:

Case Study

Left clavicular fracture.

Published in:

2016

By:

He, Lulu;
Winalski, Carl;
Deal, Chad;
Holden, Darlene;
Winalski, Carl S

Publication type:

Editorial

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.

Published in:

Skeletal Radiology, 2014, v. 43, n. 3, p. 359, doi. 10.1007/s00256-013-1797-y

By:

Lachman, Ralph;
Burton, Barbara;
Clarke, Lorne;
Hoffinger, Scott;
Ikegawa, Shiro;
Jin, Dong-Kyu;
Kano, Hiroki;
Kim, Ok-Hwa;
Lampe, Christina;
Mendelsohn, Nancy;
Shediac, Renée;
Tanpaiboon, Pranoot;
White, Klane

Publication type:

Article

Multiple Dentigerous Cysts as a Rare Presentation of Maroteaux-Lamy Syndrome.

Published in:

2017

By:

Shah, Ajaz Ahmad;
Hakim, Tajamul Ahmad;
Farooq, Shahid;
Younis, Mubashir;
Kosar, Shamina;
Malik, Altaf;
Najar, Latief

Publication type:

Case Study

Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0521-0

By:

Somanadhan, S.;
Larkin, P. J.

Publication type:

Article

Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-134

By:

Jester, Sandra;
Larsson, Julia;
Eklund, Erik A.;
Papadopoulou, Domniki;
Månsson, Jan-Eric;
Békássy, Albert N.;
Turkiewicz, Dominik;
Toporski, Jacek;
Øra, Ingrid

Publication type:

Article

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-51

By:

Brands, Marion M.;
Hoogeveen-Westerveld, Marianne;
Kroos, Marian A.;
Nobel, Willemieke;
Ruijter, George J.;
Özkan, Lale;
Plug, Iris;
Grinberg, Daniel;
Vilageliu, Lluïsa;
Halley, Dicky J.;
van der Ploeg, Ans T.;
Reuser, Arnold J.

Publication type:

Article

Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study.

Published in:

Clinical Oral Investigations, 2018, v. 22, n. 1, p. 201, doi. 10.1007/s00784-017-2100-8

By:

de Almeida-Barros, Renata Quirino;
de Medeiros, Paula Frassinetti Vasconcelos;
de Almeida Azevedo, Marcella Quirino;
de Oliveira Lira Ortega, Adriana;
Yamamoto, Angela Toshie Araki;
Dornelas, Sheyla Kátia Lúcio;
Bento, Patrícia Meira

Publication type:

Article

Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients.

Published in:

Iranian Journal of Basic Medical Sciences, 2018, v. 21, n. 9, p. 950, doi. 10.22038/IJBMS.2018.27742.6760

By:

Malekpour, Nasrin;
Vakili, Rahim;
Hamzehloie, Tayebeh

Publication type:

Article

ANESTHESIA MANAGEMENT IN A PATIENT WITH MAROTEAUX-LAMY SYNDROME.

Published in:

Nobel Medicus Journal, 2012, v. 8, n. 1, p. 114

By:

Tütüncü, Ayeş Çidem;
Kaya, Güner;
Altıntaş, Fatiş;
Kendigelen, Pınar

Publication type:

Article

A Rare Disease: Mucopolysaccharidosis Type 6 and Cardiac Involvement: Case Report.

Published in:

2015

By:

GÜVENÇ, Osman;
ÇİMEN, Derya;
ARSLAN, Derya;
ASLAN, Eyüp;
ORAN, Bülent

Publication type:

Case Study

Anaesthetic implications of the changing management of patients with mucopolysaccharidosis.

Published in:

2016

By:

Hack, H. A.;
Walker, R. W. M.;
Gardiner, P.;
Walker, Rwm

Publication type:

journal article

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.

Published in:

Clinical Rheumatology, 2014, v. 33, n. 5, p. 725, doi. 10.1007/s10067-013-2423-z

By:

Jurecka, Agnieszka;
Zakharova, Ekaterina;
Malinova, Vera;
Voskoboeva, Elena;
Tylki-Szymańska, Anna

Publication type:

Article

Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome.

Published in:

2012

By:

Parashari, Umesh;
Khanduri, Sachin;
Bhadury, Samarjit;
Rawat, Sugandha

Publication type:

Case Study

IgE-Mediated Hypersensitivity and Desensitisation with Recombinant Enzymes in Pompe Disease and Type I and Type VI Mucopolysaccharidosis.

Published in:

International Archives of Allergy & Immunology, 2016, v. 169, n. 3, p. 198, doi. 10.1159/000446154

By:

Capanoglu, Murat;
Dibek Misirlioglu, Emine;
azkur, Dilek;
Vezir, Emine;
Guvenir, Hakan;
Gunduz, Mehmet;
Toyran, Muge;
Civelek, Ersoy;
Kocabas, Can Naci

Publication type:

Article

Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI.

Published in:

International Journal of Dermatology, 2014, v. 53, n. 6, p. 736, doi. 10.1111/ijd.12303

By:

Ashrafi, Mahmoud Reza;
Tavasoli, Alireza;
Shiva, Shadi;
Parvaneh, Nima;
Tamizifar, Banafshe

Publication type:

Article

Mucopolysaccharidosis VI in cats – clarification regarding genetic testing.

Published in:

BMC Veterinary Research, 2016, v. 12, p. 1, doi. 10.1186/s12917-016-0764-y

By:

Lyons, Leslie A.;
Grahn, Robert A.;
Genova, Francesca;
Beccaglia, Michela;
Hopwood, John J.;
Longeri, Maria

Publication type:

Article

Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI.

Published in:

British Journal of Radiology, 2018, v. 91, n. 1085, p. N.PAG, doi. 10.1259/bjr.20170744

By:

Bulut, Elif;
Pektas, Emine;
Sivri, Hatice S;
Bilginer, Burcak;
Umaroglu, Mumtaz M;
Ozgen, Burce

Publication type:

Article

Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy.

Published in:

Pediatric Neurosurgery, 2013, v. 48, n. 3, p. 191, doi. 10.1159/000345635

By:

Jurecka, Agnieszka;
Opoka-Winiarska, Violetta;
Jurkiewicz, Elżbieta;
Marucha, Jolanta;
Tylki-Szymańska, Anna

Publication type:

Article

Bilateral nonsyndromic dentigerous cyst in a 10-year-old child: A case report and literature review.

Published in:

2019

By:

Pant, Bhawna;
Carvalho, Karla;
Dhupar, Anita;
Spadigam, Anita

Publication type:

Case Study