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Academic Journal

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.

  • Authors : Mengel E; Institute of Clinical Science for LSD, SphinCS, Hochheim, Germany.; Muschol N

Subjects: Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/epidemiology ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/genetics ; Niemann-Pick Diseases*/Niemann-Pick Diseases*/Niemann-Pick Diseases*/epidemiology

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 13; Vol. 19 (1), pp. 161. Date of Electronic Publication: 2024 Apr 13.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

Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.

  • Authors : Liang H; Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Zhan X

Subjects: Niemann-Pick Diseases*/Niemann-Pick Diseases*/Niemann-Pick Diseases*/genetics ; Niemann-Pick Diseases*/Niemann-Pick Diseases*/Niemann-Pick Diseases*/metabolism ; Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/genetics

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 317-326. Date of Electronic Publication: 2023 Dec 22.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.

  • Authors : Tirelli C; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.; Rondinone O

Subjects: Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/genetics ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/metabolism ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/therapy

  • Source: Biomolecules [Biomolecules] 2024 Feb 11; Vol. 14 (2). Date of Electronic Publication: 2024 Feb 11.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X

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Academic Journal

Neurons regulate the esterification of bioactive lipid mediators in the brain of acid sphingomyelinase deficient mice.

  • Authors : Taha AY; Department of Food Science and Technology, College of Agriculture and Environmental Sciences, University of California, 95616 Davis, CA, USA; West Coast Metabolomics Center, Genome Center, University of California, 95616 Davis, CA, USA

Subjects: Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/genetics ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/metabolism ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/pathology

  • Source: Progress in neuro-psychopharmacology & biological psychiatry [Prog Neuropsychopharmacol Biol Psychiatry] 2024 Feb 08; Vol. 129, pp. 110896. Date of Electronic Publication: 2023 NovPublisher: Pergamon Press Country of Publication: England NLM ID: 8211617 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Pulmonary Involvement of Niemann-Pick Disease.

  • Authors : Ufuk F; From the Department of Radiology, Pamukkale University, Kinikli, 20070 Pamukkale, Denizli, Turkey.

Subjects: Niemann-Pick Diseases*/Niemann-Pick Diseases*/Niemann-Pick Diseases*/complications ; Niemann-Pick Diseases*/Niemann-Pick Diseases*/Niemann-Pick Diseases*/diagnostic imaging; Humans

  • Source: Radiology [Radiology] 2024 Feb; Vol. 310 (2), pp. e232633.Publisher: Radiological Society of North America Country of Publication: United States NLM ID: 0401260 Publication Model: Print Cited Medium: Internet

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Academic Journal

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency.

  • Authors : Raebel EM; Rare Disease Research Partners, MPS House, Repton Place, White Lion Road, Amersham, HP7 9LP, UK.; Wiseman S

Subjects: Enzyme Replacement Therapy*/Enzyme Replacement Therapy*/Enzyme Replacement Therapy*/methods ; Niemann-Pick Diseases*/Niemann-Pick Diseases*/Niemann-Pick Diseases*/therapy ; Recombinant Proteins*/Recombinant Proteins*/Recombinant Proteins*/therapeutic use

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 01; Vol. 19 (1), pp. 36. Date of Electronic Publication: 2024 Feb 01.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

Effect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood-brain barrier.

  • Authors : Loeck M; Institute for Bioengineering of Catalonia (IBEC), Barcelona Institute of Science and Technology, Barcelona, Spain.; Placci M

Subjects: Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/drug therapy ; Niemann-Pick Diseases*; Humans

  • Source: Drug delivery and translational research [Drug Deliv Transl Res] 2023 Dec; Vol. 13 (12), pp. 3077-3093. Date of Electronic Publication: 2023 Jun 21.Publisher: Springer Country of Publication: United States NLM ID: 101540061 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The Long-term Lung and Respiratory Outcomes of Acid Sphingomyelinase Deficiency: A 10- and 20-year Follow-up Study.

  • Authors : Huang YN; Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan, R.O.C.; School of Medicine, Chung Shan Medical University, Taichung, Taiwan, R.O.C.

Subjects: Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/diagnosis ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/genetics ; Niemann-Pick Diseases*

  • Source: In vivo (Athens, Greece) [In Vivo] 2024 Jan-Feb; Vol. 38 (1), pp. 437-444.Publisher: International Institute of Anticancer Research Country of Publication: Greece NLM ID: 8806809 Publication Model: Print Cited Medium: Internet

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Academic Journal

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.

  • Authors : Wasserstein MP; Children's Hospital at Montefiore and the Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA. .; Lachmann R

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

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 02; Vol. 18 (1), pp. 378. Date of Electronic Publication: 2023 Dec 02.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

[Ocular manifestation of an adult Niemann-Pick disease type B].

  • Authors : Angeli O; 1 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika Budapest Magyarország.; Nagy Z

Subjects: Niemann-Pick Disease, Type B*/Niemann-Pick Disease, Type B*/Niemann-Pick Disease, Type B*/complications ; Niemann-Pick Disease, Type B*/Niemann-Pick Disease, Type B*/Niemann-Pick Disease, Type B*/diagnosis ; Niemann-Pick Diseases*/Niemann-Pick Diseases*/Niemann-Pick Diseases*/complications

  • Source: Orvosi hetilap [Orv Hetil] 2023 Nov 19; Vol. 164 (46), pp. 1838-1844. Date of Electronic Publication: 2023 Nov 19 (Print Publication: 2023).Publisher: Akademiai Kiado Country of Publication: Hungary NLM ID: 0376412 Publication Model: Electronic-Print Cited Medium: Internet ISSN:

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  • 1-10 of  5,464 results for ""NIEMANN-Pick diseases""