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Academic Journal

Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.

  • Authors : de Castro MJ; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.

Subjects: Sterol Esterase*/Sterol Esterase*/Sterol Esterase*/administration & dosage ; Sterol Esterase*/Sterol Esterase*/Sterol Esterase*/therapeutic use ; Wolman Disease*/Wolman Disease*/Wolman Disease*/drug therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 25; Vol. 19 (1), pp. 244. Date of Electronic Publication: 2024 Jun 25.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.

  • Authors : Demaret T; Pediatric Department, Cliniques universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), Brussels, Belgium. .; Centre for Human Genetics, Institut de Pathologie et de Génétique, Gosselies, Belgium. .

Subjects: Wolman Disease*/Wolman Disease*/Wolman Disease*/drug therapy; Enzyme Replacement Therapy ; Follow-Up Studies

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Dec 14; Vol. 16 (1), pp. 507. Date of Electronic Publication: 2021 Dec 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

"Why them, why me, why us?" The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study.

  • Authors : Hassall S; Faculty of Biology, Medicine and Health, Division of Psychology and Mental Health, School of Health Sciences, Manchester Academic Health Science Centre, The University of Manchester, 2nd Floor Zochonis Building, Brunswick Street, Manchester, M13 9NY, UK.; Greater Manchester Mental Health NHS Foundation Trust, Prestwich, UK.

Subjects: Wolman Disease*/Wolman Disease*/Wolman Disease*/diagnosis; Child ; Enzyme Replacement Therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 12; Vol. 17 (1), pp. 193. Date of Electronic Publication: 2022 May 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies.

  • Authors : Vijay S; Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK. .; Brassier A

Subjects: Wolman Disease*/Wolman Disease*/Wolman Disease*/drug therapy; Child, Preschool ; Enzyme Replacement Therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jan 06; Vol. 16 (1), pp. 13. Date of Electronic Publication: 2021 Jan 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.

  • Authors : Potter JE; Department of Blood and Marrow Transplantation, Royal Manchester Children's Hospital, Oxford Road, Manchester, UK. .; Petts G

Subjects: Enzyme Replacement Therapy* ; Hematopoietic Stem Cell Transplantation*; Wolman Disease/Wolman Disease/Wolman Disease/*therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 May 21; Vol. 16 (1), pp. 235. Date of Electronic Publication: 2021 May 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.

  • Authors : Pritchard AB; Present address: C.S. Mott Children's Hospital, Michigan Medicine, 1500 E Medical Center Dr, Ann Arbor, MI, 48109, USA.; Strong A

Subjects: Dyslipidemias*/Dyslipidemias*/Dyslipidemias*/drug therapy ; Wolman Disease*/Wolman Disease*/Wolman Disease*/drug therapy; Child

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Feb 24; Vol. 15 (1), pp. 58. Date of Electronic Publication: 2020 Feb 24.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics.

  • Authors : Aguisanda F; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.; Present Address: Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA, USA.

Subjects: Neural Stem Cells/Neural Stem Cells/Neural Stem Cells/*drug effects ; Neural Stem Cells/Neural Stem Cells/Neural Stem Cells/*metabolism ; Wolman Disease/Wolman Disease/Wolman Disease/*metabolism

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Jun 28; Vol. 12 (1), pp. 120. Date of Electronic Publication: 2017 Jun 28.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.

  • Authors : Cohen JL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.; Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA, 19104, USA.

Subjects: Enzyme Replacement Therapy/Enzyme Replacement Therapy/Enzyme Replacement Therapy/*methods ; Wolman Disease/Wolman Disease/Wolman Disease/*diagnosis ; Wolman Disease/Wolman Disease/Wolman Disease/*drug therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Aug 14; Vol. 14 (1), pp. 198. Date of Electronic Publication: 2019 Aug 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

  • Authors : Jones SA; Manchester Centre for Genomic Medicine, 6th floor, St Mary's Hospital, Central Manchester Foundation Trust, University of Manchester, Oxford Road, Manchester, M13 9WL, UK. .; Rojas-Caro S

Subjects: Sterol Esterase/Sterol Esterase/Sterol Esterase/*therapeutic use ; Wolman Disease/Wolman Disease/Wolman Disease/*drug therapy; Female

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Feb 08; Vol. 12 (1), pp. 25. Date of Electronic Publication: 2017 Feb 08.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

  • Authors : Di Rocco M; Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Largo Gaslini 3, 16147, Genoa, Italy. .; Pisciotta L

Subjects: Ezetimibe/Ezetimibe/Ezetimibe/*therapeutic use ; Wolman Disease/Wolman Disease/Wolman Disease/*blood ; Wolman Disease/Wolman Disease/Wolman Disease/*drug therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jan 27; Vol. 13 (1), pp. 24. Date of Electronic Publication: 2018 Jan 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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  • 1-10 of  59 results for ""Wolman Disease""