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Academic Journal

A 14-step desensitization protocol for sebelipase alfa hypersensitivity in a patient with Wolman disease and secondary hemophagocytic lymphohistiocytosis.

  • Authors : Nguyen MHN; Division of Allergy and Immunology, Department of Pediatrics, University of South Florida Morsani College of Medicine, Tampa, Florida, USA.; Bruening R

Subjects: Wolman Disease*/Wolman Disease*/Wolman Disease*/complications ; Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/therapy ; Hypersensitivity*/Hypersensitivity*/Hypersensitivity*/complications

  • Source: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology [Pediatr Allergy Immunol] 2024 Apr; Vol. 35 (4), pp. e14121.Publisher: Blackwell Publishing Country of Publication: England NLM ID: 9106718 Publication Model: Print Cited Medium: Internet ISSN: 1399-3038

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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

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.

  • Authors : Elaraby NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. .; Galal ER

Subjects: Wolman Disease*/Wolman Disease*/Wolman Disease*/drug therapy ; Wolman Disease*/Wolman Disease*/Wolman Disease*/genetics; Humans

  • Source: Journal of molecular neuroscience : MN [J Mol Neurosci] 2023 Aug; Vol. 73 (7-8), pp. 598-607. Date of Electronic Publication: 2023 Jul 20.Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.

  • Authors : Bastos KLM; Unidade de Genética, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.; Stephan BO

Subjects: Liver Transplantation* ; Wolman Disease*/Wolman Disease*/Wolman Disease*/genetics ; Wolman Disease*/Wolman Disease*/Wolman Disease*/diagnosis

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 08; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 08.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.

  • Authors : Asna Ashari K; Children's Medical Center, Pediatrics Center of Excellence, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

Subjects: Wolman Disease*/Wolman Disease*/Wolman Disease*/complications ; Wolman Disease*/Wolman Disease*/Wolman Disease*/diagnosis ; Wolman Disease*/Wolman Disease*/Wolman Disease*/genetics

  • Source: Journal of medical case reports [J Med Case Rep] 2023 Aug 29; Vol. 17 (1), pp. 369. Date of Electronic Publication: 2023 Aug 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947

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Academic Journal

Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.

  • Authors : Jackson J; Firmalab, Hollywood, California, USA.; California State University Channel Islands, Camarillo, California, USA.

Subjects: Wolman Disease*/Wolman Disease*/Wolman Disease*/diagnosis ; Wolman Disease*/Wolman Disease*/Wolman Disease*/epidemiology ; Wolman Disease*/Wolman Disease*/Wolman Disease*/genetics

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2023 Oct; Vol. 27 (10), pp. 319-324.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.

  • Authors : Balwani M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Balistreri W

Subjects: Dyslipidemias*/Dyslipidemias*/Dyslipidemias*/epidemiology ; Dyslipidemias*/Dyslipidemias*/Dyslipidemias*/complications ; Fatty Liver*/Fatty Liver*/Fatty Liver*/complications

  • Source: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2023 Jul; Vol. 43 (7), pp. 1537-1547. Date of Electronic Publication: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.

  • Authors : Hannah WB; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.; Ryan K

Subjects: Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/diagnosis ; Wolman Disease*/Wolman Disease*/Wolman Disease*/diagnosis ; Wolman Disease*/Wolman Disease*/Wolman Disease*/drug therapy

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3364-3368. Date of Electronic Publication: 2022 Aug 16.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.

  • Authors : Eskandari SK; From the Department of Metabolic Diseases, Beatrix Children's Hospital (S.K.E., F.B., F.J.S., C.M.A.L.), and the Department of Surgery (S.K.E.), University Medical Center (UMC) Groningen, Groningen, the Division of Pediatrics (E.G.M.R., M.B., P.M.H., C.A.L.) and the Department of Metabolic Diseases (P.M.H.), UMC Utrecht, and the Department of Stem Cell Transplantation, Princess Máxima Center for Pediatric Oncology (E.G.M.R., M.B., C.A.L.), Utrecht, and the Department of Pediatrics, Gelre Hospital, Apeldoorn (D.J.P.) - all in the Netherlands.; Revenich EGM

Subjects: Wolman Disease*/Wolman Disease*/Wolman Disease*/therapy ; Hematopoietic Stem Cell Transplantation*; Infant

  • Source: The New England journal of medicine [N Engl J Med] 2024 Feb 15; Vol. 390 (7), pp. 623-629.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Loss of lysosomal acid lipase results in mitochondrial dysfunction and fiber switch in skeletal muscles of mice.

  • Authors : Akhmetshina A; Gottfried Schatz Research Center, Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria.; Bianco V

Subjects: Mitochondrial Diseases* ; Wolman Disease*/Wolman Disease*/Wolman Disease*/genetics; Animals

  • Source: Molecular metabolism [Mol Metab] 2024 Jan; Vol. 79, pp. 101869. Date of Electronic Publication: 2023 Dec 30.Publisher: Elsevier GmbH Country of Publication: Germany NLM ID: 101605730 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  3,305 results for ""Wolman Disease""