Works matching DE "MUCOPOLYSACCHARIDOSIS IV"

Results: 45

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 45, doi. 10.2147/TACG.S141881

By:

Tapiero-Rodriguez, Sandra M;
Guio, Johanna C Acosta;
Porras-Hurtado, Gloria Liliana;
García, Natalia;
Solano, Martha;
Pachajoa, Harry;
Velasco, Harvy M

Publication type:

Article

Role of elosulfase alfa in mucopolysaccharidosis IVA.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 67, doi. 10.2147/TACG.S69080

By:

Regier, Debra S.;
Tanpaiboon, Pranoot

Publication type:

Article

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).

Published in:

2016

By:

Al Kaissi, Ali;
Kenis, Vladimir;
Melchenko, Eugeniy;
Ghachem, Maher Ben;
Csepan, Robert;
Grill, Franz;
Ganger, Rudolf

Publication type:

journal 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

The value of physiatrists in pediatric intensive care unit: A case report of botulinum toxin injection into masseter muscle for the treatment of trismus.

Published in:

Turkish Journal of Physical Medicine & Rehabilitation (2587-1250), 2020, v. 66, n. 4, p. 495, doi. 10.5606/tftrd.2021.5452

By:

Giray, Esra;
Gencer-Atalay, Kardelen;
Karadağ-Saygı, Evrim;
Yağcı, İlker

Publication type:

Article

The value of physiatrists in pediatric intensive care unit: A case report of botulinum toxin injection into masseter muscle for the treatment of trismus.

Published in:

2020

By:

Giray, Esra;
Gencer-Atalay, Kardelen;
Karadağ-Saygı, Evrim;
Yağcı, İlker

Publication type:

Case Study

A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring.

Published in:

Clinical Medicine Insights: Case Reports, 2021, v. 14, p. 1, doi. 10.1177/1179547621999409

By:

Goldman, Eric;
Vu, Angela;
Dietz, Kelly;
Thomas, Stefani N.

Publication type:

Article

Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

Published in:

Journal of Orthopaedic Research, 2013, v. 31, n. 4, p. 621, doi. 10.1002/jor.22281

By:

Lai, Alon;
Simonaro, Calogera M.;
Schuchman, Edward H.;
Ge, Yi;
Laudier, Damien M.;
Iatridis, James C.

Publication type:

Article

Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 28, doi. 10.4274/jpr.52244

By:

Canda, Ebru;
Yazıcı, Havva;
Er, Esra;
Eraslan, Cenk;
Uçar, Sema Kalkan;
Çoker, Mahmut

Publication type:

Article

Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome.

Published in:

2019

By:

Soylu Ustkoyuncu, Pembe;
Nalcacioglu, Hulya;
Bastug, Funda;
Yel, Sibel;
Altuner Torun, Yasemin

Publication type:

journal article

Squashed dreams and rare breeds: ableism and the arbiters of life and death.

Published in:

2015

By:

Long, Sarah

Publication type:

Journal Article

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

Published in:

2017

By:

Hughes, D.;
Giugliani, R.;
Guffon, N.;
Jones, S. A.;
Mengel, K. E.;
Parini, R.;
Matousek, R.;
Hawley, S. M.;
Quartel, A.

Publication type:

journal article

Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome.

Published in:

2017

By:

Schrover, Rudolf;
Evans, Kathryn;
Giugliani, Roberto;
Noble, Ian;
Bhattacharya, Kaustuv

Publication type:

journal article

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-21

By:

Hsiang-Yu Lin;
Chih-Kuang Chuang;
Ming-Ren Chen;
Pao Chin Chiu;
Yu-Yuan Ke;
Dau-Ming Niu;
Fuu-Jen Tsai;
Wuh-Liang Hwu;
Ju-Li Lin;
Shuan-Pei Lin

Publication type:

Article

Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management.

Published in:

Journal of Pediatric Neurosciences, 2016, v. 11, n. 3, p. 237, doi. 10.4103/1817-1745.193370

By:

Satyarthee, Guru Dutta;
Mankotia, Dipanker Singh

Publication type:

Article

Airway Management of the Deformed Trachea Using T-Tube Stents in Patients with Mucopolysaccharidosis Type IVA.

Published in:

Annals of Otology, Rhinology & Laryngology, 2022, v. 131, n. 5, p. 562, doi. 10.1177/00034894211032778

By:

Lee, Yi-Hao;
Hsieh, Li-Chun;
Su, Chin-Hui;
Lin, Hsiang-Yu;
Lin, Shuan-Pei;
Lee, Kuo-Sheng

Publication type:

Article

Hip morphology in mucopolysaccharidosis type IVA through radiograph, magnetic resonance imaging and arthrogram assessment.

Published in:

2020

By:

Miao, Mingyuan;
Wang, Zhigang;
Cai, Haiqing;
Hu, Liwei;
Bian, Jingxia;
Cai, Haoqi

Publication type:

journal 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

Morquio’s Syndrome: A Case Report of Two Siblings.

Published in:

Case Reports in Dentistry, 2017, p. 1, doi. 10.1155/2017/6176372

By:

Muthukumar Ramalingam, Sathish;
Srinivasan, Daya;
ArunKumar, Sandhya;
ChiriyanKandath, Joe Louis;
Kaliamoorthy, Sriram

Publication type:

Article

I-gel assisted fiberoptic intubation in a child with Morquio's syndrome.

Published in:

2015

By:

Dhanger, Sangeeta;
Adinarayanan, Sethuramachandran;
Vinayagam, Stalin;
Kumar, Mohanasundaram Praveen

Publication type:

Case Study

CLINICAL NEWS.

Published in:: British Journal of Hospital Medicine (17508460), 2014, v. 75, n. 6, p. 309, doi. 10.12968/hmed.2014.75.6.308
Publication type:: Article

Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome.

Published in:

2020

By:

Sosa, Angela C.;
Kariuki, Barbara;
Qi Gan;
Knutsen, Alan P.;
Bellone, Clifford J.;
Guzmán, Miguel A.;
Barrera, Luis A.;
Shunji Tomatsu;
Chauhan, Anil K.;
Armbrecht, Eric;
Montaño, Adriana M.;
Gan, Qi;
Tomatsu, Shunji

Publication type:

journal article

In This Issue.

Published in:: Molecular Therapy, 2012, v. 20, n. 5, p. 880, doi. 10.1038/mt.2012.74
Publication type:: Article

Mucopolysaccharidoses type IV A (Morquio syndrome): A case series of three siblings.

Published in:

Journal of the Indian Society of Pedodontics & Preventive Dentistry, 2012, v. 30, n. 1, p. 66, doi. 10.4103/0970-4388.95586

By:

Rekka, P.;
Rathna, P. V.;
Jagadeesh, S.;
Seshadri, S.

Publication type:

Article

Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood.

Published in:

Children, 2025, v. 12, n. 3, p. 365, doi. 10.3390/children12030365

By:

Church, Chris;
Patil, Sana;
Butler, Stephanie;
Miller, Freeman;
Salazar-Torres, Jose J.;
Lennon, Nancy;
Shrader, M. Wade;
Donohoe, Maureen;
Kalisperis, Faithe;
Mackenzie, W. G. Stuart;
Nichols, Louise Reid

Publication type:

Article

The Minimally Invasive Bipolar Fixation for Pediatric Spinal Deformities: A Narrative Review.

Published in:

Children, 2024, v. 11, n. 2, p. 228, doi. 10.3390/children11020228

By:

Miladi, Lotfi;
Solla, Federico;
Gaume, Mathilde

Publication type:

Article

Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene.

Published in:

Balkan Medical Journal, 2022, v. 39, n. 3, p. 220, doi. 10.4274/balkanmedj.galenos.2022.2022-1-72

By:

Pajic, Milos D.;
Kavecan, Ivana I.;
Maksimovic, Jadranka M.;
Babovic, Sinisa S.;
Stojanoska, Biljana T. Bojadzieva

Publication type:

Article

Anaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgery.

Published in:

1999

By:

Bartz, H.-J.;
Wiesner, L.;
Wappler, F.

Publication type:

journal article

Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.

Published in:

2021

By:

Kılavuz, Sebile;
Basaran, Sibel;
Kor, Deniz;
Bulut, Fatma Derya;
Erdem, Sevcan;
Ballı, Hüseyin Tuğsan;
Dağkıran, Muhammed;
Bisgin, Atil;
Mungan, Halise Neslihan Önenli

Publication type:

journal article

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.

Published in:

2020

By:

Ficicioglu, Can;
Matalon, Dena R.;
Luongo, Nicole;
Menello, Caitlin;
Kornafel, Tracy;
Degnan, Andrew J.

Publication type:

journal article

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Published in:

2020

By:

Chien, Yin-Hsiu;
Lee, Ni-Chung;
Chen, Pin-Wen;
Yeh, Hui-Ying;
Gelb, Michael H.;
Chiu, Pao-Chin;
Chu, Shao-Yin;
Lee, Chen-Hao;
Lee, An-Ru;
Hwu, Wuh-Liang

Publication type:

journal article

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.

Published in:

Diagnostic Pathology, 2016, v. 11, p. 1, doi. 10.1186/s13000-016-0498-y

By:

Chkioua, Latifa;
Khedhiri, Souhir;
Hafsi, Hind;
Grissa, Oussama;
Turkia, Hadhami Ben;
Miled, Abdelhedi;
Laradi, Sandrine;
Froissart, Roseline;
Alif, Najat

Publication type:

Article

Occipitocervical stabilization using bilateral laminar C2 screws in children with mucopolysaccharidosis IVA.

Published in:

2015

By:

Vanek, Petr;
Homolkova, Helena;
Benes, Vladimir;
Zeman, Jiri

Publication type:

journal article

Widespread Vasculopathy in a Patient with Morquio A Syndrome.

Published in:

2017

By:

Powell, Adam W.;
Taylor, Michael D.;
Burrow, T. Andrew;
Hopkin, Robert J.;
Prada, Carlos E.;
Jefferies, John L.

Publication type:

Case Study

Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report.

Published in:

2018

By:

Ferreira dos Reis, Moema;
Pinheiro, Lucas Rodrigues;
Pinheiro, Maria das Graças Rodrigues;
de Almeida, Haroldo Amorim;
Feio, Patrícia do Socorro Queiroz;
de Almeida, Sâmia Cordovil;
de Souza, Isabel Cristina Neves;
Giugliani, Roberto;
Schwartz, Ida Vanessa Doederlein;
Cavaleiro, Rosely Maria dos Santos;
Pinheiro, João de Jesus Viana;
da Silva, Luiz Carlos Santana

Publication type:

journal article

Genetics.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 137
Publication type:: Article

Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 1, p. 22
Publication type:: Article

Management of Morquio Syndrome in a Repeat Caesarean Section.

Published in:

International Student Journal of Nurse Anesthesia, 2017, v. 16, n. 2, p. 28

By:

Iacocca, Adam J.

Publication type:

Article

Lysosomal storage disorders: Clinical, biochemical and molecular profile from rare disease centre, India.

Published in:

Annals of Indian Academy of Neurology, 2021, v. 24, n. 5, p. 686, doi. 10.4103/aian.AIAN_1009_20

By:

Goyal, Manisha;
Gupta, Ashok

Publication type:

Article

Atlantoaxial instability as the presenting feature of Morquio syndrome.

Published in:

2014

By:

Amalnath, Deepak S.;
Kalaimani, S.;
Dutta, Tarun Kumar

Publication type:

Case Study

Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI.

Published in:

Tohoku Journal of Experimental Medicine, 2015, v. 235, n. 4, p. 267, doi. 10.1620/tjem.235.267

By:

Wei-De Lin;
Yu-Yuan Ke;
I-Ching Chou;
Chung-Hsing Wang;
Fuu-Jen Tsai

Publication type:

Article

Morquio's Syndrome and Craniocervical Instability.

Published in:

Pediatric Neurosurgery, 2012, v. 47, n. 3, p. 238, doi. 10.1159/000334310

By:

Houten, John K.;
Kinon, Merritt D.;
Goodrich, James T.

Publication type:

Article

New treatments for the mucopolysaccharidoses: from pathophysiology to therapy.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0564-z

By:

Fecarotta, Simona;
Gasperini, Serena;
Parenti, Giancarlo

Publication type:

Article

Enzyme replacement therapy: efficacy and limitations.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0562-1

By:

Concolino, Daniela;
Deodato, Federica;
Parini, Rossella

Publication type:

Article

Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0560-3

By:

Boffi, Lucia;
Russo, Pierluigi;
Limongelli, Giuseppe

Publication type:

Article