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Academic Journal

Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?

  • Authors : Maines E; Division of Pediatrics, S. Chiara General Hospital, Trento, Italy. Electronic address: .; Franceschi R

Subjects: Atherosclerosis*/Atherosclerosis*/Atherosclerosis*/drug therapy ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/drug therapy ; Niemann-Pick Disease, Type B*/Niemann-Pick Disease, Type B*/Niemann-Pick Disease, Type B*/drug therapy

  • Source: Journal of clinical lipidology [J Clin Lipidol] 2022 Mar-Apr; Vol. 16 (2), pp. 143-154. Date of Electronic Publication: 2022 Feb 01.Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium:

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Report

[A novel mutation in two spanish children with the Niemann Pick disease: Description of genotype, acid sphingomyelinase activity, phenotype and review].

  • Authors : Del Villar-Guerra P; Servicio de Pediatría, Complejo Asistencial de Segovia, Segovia, España. Electronic address: .; Reig C

Subjects: Niemann-Pick Diseases* ; Sphingomyelin Phosphodiesterase*/Sphingomyelin Phosphodiesterase*/Sphingomyelin Phosphodiesterase*/genetics; Child

  • Source: Anales de pediatria [An Pediatr (Engl Ed)] 2021 May; Vol. 94 (5), pp. 327-330. Date of Electronic Publication: 2020 Aug 08.Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Niemann-Pick disease with isolated leukemic nonnodal mantle cell lymphoma of the spleen.

Subjects: Lymphoma, Mantle-Cell/Lymphoma, Mantle-Cell/Lymphoma, Mantle-Cell/*complications ; Lymphoma, Mantle-Cell/Lymphoma, Mantle-Cell/Lymphoma, Mantle-Cell/*pathology ; Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*complications

  • Source: Blood [Blood] 2020 Mar 05; Vol. 135 (10), pp. 778.Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet

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Academic Journal

An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene.

  • Authors : Li R; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: .; Pradhan M

Subjects: Cell Line* ; Induced Pluripotent Stem Cells* ; Niemann-Pick Disease, Type A*

  • Source: Stem cell research [Stem Cell Res] 2020 Apr; Vol. 44, pp. 101737. Date of Electronic Publication: 2020 Feb 19.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium:

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Editorial & Opinion

Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease.

  • Authors : Lidove O; Service de Médecine Interne, Centre de Référence des Maladies Lysosomales, Hôpital de la Croix, 125 rue d'Avron, 75020 Paris, France.; Mauhin W

Subjects: Lung Transplantation* ; Niemann-Pick Disease, Type A* ; Niemann-Pick Diseases*

  • Source: The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation [J Heart Lung Transplant] 2019 May; Vol. 38 (5), pp. Publisher: Elsevier Country of Publication: United States NLM ID: 9102703 Publication Model: Print-Electronic Cited Medium:

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Successful lung transplantation in a patient with Niemann‒Pick disease.

  • Authors : Ding F; Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Mehta AC

Subjects: Lung/Lung/Lung/*diagnostic imaging ; Lung Transplantation/Lung Transplantation/Lung Transplantation/*methods ; Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*surgery

  • Source: The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation [J Heart Lung Transplant] 2019 May; Vol. 38 (5), pp. Publisher: Elsevier Country of Publication: United States NLM ID: 9102703 Publication Model: Print-Electronic Cited Medium:

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Lung transplantation in a patient with Niemann-Pick disease.

  • Authors : Mannem H; Division of Pulmonary and Critical Care Medicine, University of Virginia School of Medicine, Charlottesville, Virginia, USA.; Kilbourne S

Subjects: Lung Transplantation/Lung Transplantation/Lung Transplantation/*methods ; Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*surgery; Biopsy

  • Source: The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation [J Heart Lung Transplant] 2019 Jan; Vol. 38 (1), pp. Publisher: Elsevier Country of Publication: United States NLM ID: 9102703 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Niemann-Pick diseases.

  • Authors : Vanier MT; INSERM, U820, Université de Lyon, Faculté de Médecine Lyon-Est, and Laboratoire de Neurobiologie Gillet-Mérieux, Hopitaux Est, Lyon, France. Electronic address: .

Subjects: Niemann-Pick Diseases/Niemann-Pick Diseases/Niemann-Pick Diseases/*diagnosis; Humans ; Mutation

  • Source: Handbook of clinical neurology [Handb Clin Neurol] 2013; Vol. 113, pp. 1717-21.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0166161 Publication Model: Print Cited Medium: Print

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Academic Journal

A hopeful therapy for Niemann-Pick C diseases.

  • Authors : Erickson RP; Department of Pediatrics, University of Arizona School of Medicine, Tucson, AZ, 85724-5073, USA. Electronic address: .; Fiorenza MT

Subjects: Hope* ; Niemann-Pick Diseases*; Humans

  • Source: Lancet (London, England) [Lancet] 2017 Oct 14; Vol. 390 (10104), pp. 1720-1721. Date of Electronic Publication: 2017 Aug 10.Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase.

  • Authors : Abdul-Hammed M; Life and Medical Sciences (LIMES) Institut, Membrane Biology and Lipid Biochemistry Unit, Kekulé-Institut für Organische Chemie und Biochemie, Universität Bonn, Bonn, Germany.; Biophysical Chemistry Group, Department of Pure and Applied Chemistry, Ladoke Akintola University of Technology, Ogbomoso, Nigeria.

Subjects: Gaucher Disease/Gaucher Disease/Gaucher Disease/*metabolism ; Glucosylceramidase/Glucosylceramidase/Glucosylceramidase/*genetics ; Glucosylceramides/Glucosylceramides/Glucosylceramides/*metabolism

  • Source: Journal of lipid research [J Lipid Res] 2017 Mar; Vol. 58 (3), pp. 563-577. Date of Electronic Publication: 2017 Jan 26.Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  233 results for ""Niemann-Pick Diseases""