Search Results - "Dualibi AP"

Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience: ERT in MPS type I.

Authors: Fateen, Ekram Sahrigy, Sally A. F. El Ibrahim, Mona et al.

Source: Egyptian Journal of Medical Human Genetics. 3/9/2025, Vol. 26 Issue 1, p1-14. 14p.

Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo.

Authors: Kashiwagi, Marina Nakao, Kazumasa Yamanaka, Shigeki et al.

Source: PLoS ONE. 11/10/2022, Vol. 17 Issue 11, p1-13. 13p.

Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration.

Authors: Lagranha, Valeska Lizzi de Carvalho, Talita Giacomet Giugliani, Roberto et al.

Source: Journal of Microencapsulation. Jun2013, Vol. 30 Issue 4, p383-389. 7p.

CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A SINGLE CENTER EXPERIENCE.

Alternate Title: Série de casos de pacientes em tratamento com laronidase quinzenal: relato da experiência de um centro.

Authors: Obikawa Kyosen, Sandra Obikawa Tom, Leny Bonciani Nader, Helena et al.

Source: Revista Paulista de Pediatria. Jul-Sep2019, Vol. 37 Issue 3, p312-317. 6p.

LONG-TERM RESTORATION OF ALPHA-L-IDURONIDASE ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE I AFTER NON-VIRAL GENE TRANSFER.

Authors: de Oliveira Poswar, Fabiano Mayer, Fabiana Quoos Burin, Maira et al.

Source: Clinical & Biomedical Research. 2017, Vol. 37 Issue 4, p330-333. 4p.

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.

Authors: Dornelles, Alícia Dorneles Artigalás, Osvaldo da Silva, André Anjos et al.

Source: PLoS ONE. 8/31/2017, Vol. 12 Issue 8, p1-18. 18p.

Effects of Adenotonsillectomy on Serum Levels of IGF-1 and IGFBP-3 and Growth Indices in Children with Adenotonsillar Hypertrophy or Recurrent Tonsillitis.

Authors: Farmarzi, Mohammad Shishegar, Mahmood Heydari, Seyed Taghi et al.

Source: Iranian Journal of Otorhinolaryngology. Sep2016, Vol. 28 Issue 5, p329-335. 7p.

The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure.

Authors: Schiattarella, Gabriele Giacomo Cerulo, Giuliana De Pasquale, Valeria et al.

Source: PLoS ONE. 7/6/2015, Vol. 10 Issue 7, p1-15. 15p.

Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I.

Authors: Pasqualim, Gabriela Baldo, Guilherme de Carvalho, Talita Giacomet et al.

Source: PLoS ONE. Feb2015, Vol. 10 Issue 2, p1-15. 15p.

Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis.

Authors: Fahnehjelm, Kristina T. Ashworth, Jane L. Pitz, Susanne et al.

Source: Acta Ophthalmologica (1755375X). Nov2012, Vol. 90 Issue 7, p595-602. 8p.

Mucopolysaccharidosis type I with craniosynostosis.

Authors: Sadashiva, Nishanth Bindu, Parayil Sankaran Santosh, Vani et al.

Source: Neurology India. Jul/Aug2015, Vol. 63 Issue 4, p612-614. 3p.

Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.

Authors: Dos Santos Martins TG de Azevedo Costa ALF Pimentel SLG et al.

Source: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2023 Jun; Vol. 146 (3), pp. 273-279. Date of Electronic Publication: 2023 Feb 20.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622 (Electronic) Linking ISSN: 00124486 NLM ISO Abbreviation: Doc Ophthalmol Subsets: MEDLINE

Successful spinal anesthesia in a patient with mucopolysaccharidosis type I under femoral fracture reduction and external fixation.

Authors: Sun L Zhang J Zhao X

Source: Pediatric investigation [Pediatr Investig] 2019 Mar 22; Vol. 3 (1), pp. 55-57. Date of Electronic Publication: 2019 Mar 22 (Print Publication: 2019).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101731527 Publication Model: eCollection Cited Medium: Internet ISSN: 2574-2272 (Electronic) Linking ISSN: 25742272 NLM ISO Abbreviation: Pediatr Investig Subsets: PubMed not MEDLINE

Prenatal diagnosis of mucopolysaccharidoses type II by two-dimensional electrophoresis and mass spectrometry in amniotic fluid.

Authors: Aboulnasr AA Elnouri A Abdel Sameea G et al.

Source: The journal of obstetrics and gynaecology research [J Obstet Gynaecol Res] 2022 Mar; Vol. 48 (3), pp. 682-687. Date of Electronic Publication: 2022 Jan 13.

Publication Type: Journal Article

Journal Info: Publisher: Wiley on behalf of the Japan Society of Obstetrics and Gynecology] Country of Publication: Australia NLM ID: 9612761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1447-0756 (Electronic) Linking ISSN: 13418076 NLM ISO Abbreviation: J Obstet Gynaecol Res Subsets: MEDLINE

Network Analysis Reveals Proteins Associated with Aortic Dilatation in Mucopolysaccharidoses.

Authors: Corrêa T Feltes BC Gonzalez EA et al.

Source: Interdisciplinary sciences, computational life sciences [Interdiscip Sci] 2021 Mar; Vol. 13 (1), pp. 34-43. Date of Electronic Publication: 2021 Jan 21.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101515919 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1867-1462 (Electronic) Linking ISSN: 18671462 NLM ISO Abbreviation: Interdiscip Sci Subsets: MEDLINE

Inherited Metabolic Epilepsies

Authors: Phillip L. Pearl

Resource Type: eBook.

Subjects: Brain Diseases, Metabolic, Inborn--complications, Epilepsy--etiology, Brain Diseases, Metabolic, Inborn--diagnosis, Brain Diseases, Metabolic, Inborn--therapy, Epilepsy--diagnosis, Epilepsy--therapy

Categories: MEDICAL / Neurology

Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I.

Authors: Kuiper GA Nijmeijer SCM Roelofs MJM et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Sep; Vol. 42 (5), pp. 762-775. Date of Electronic Publication: 2019 May 16.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.

Authors: Braunlin E Bay L Guffon N et al.

Source: Cardiology in the young [Cardiol Young] 2024 Feb; Vol. 34 (2), pp. 401-411. Date of Electronic Publication: 2023 Oct 18.

Publication Type: Journal Article

Journal Info: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Authors: Parini R Broomfield A Cleary MA et al.

Source: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2018 Dec; Vol. 107 (12), pp. 2059-2065. Date of Electronic Publication: 2018 Oct 23.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1651-2227 (Electronic) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE

International guidelines for the management and treatment of Morquio A syndrome.

Authors: Hendriksz CJ Berger KI Giugliani R et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Jan; Vol. 167A (1), pp. 11-25. Date of Electronic Publication: 2014 Oct 24.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE