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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

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

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

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.

  • Authors : Di Rocco M; Department of Pediatrics, Unit of Rare Diseases IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Vici CD

Subjects: Gaucher Disease*/Gaucher Disease*/Gaucher Disease*/diagnosis ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/diagnosis ; Niemann-Pick Disease, Type A*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 197. Date of Electronic Publication: 2023 Jul 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

Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.

  • Authors : Lachmann RH; National Hospital for Neurology, University College London Hospitals, London, UK. .; Diaz GA

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

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Apr 25; Vol. 18 (1), pp. 94. Date of Electronic Publication: 2023 Apr 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

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).

  • Authors : Geberhiwot T; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK. .; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK. .

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

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Apr 17; Vol. 18 (1), pp. 85. Date of Electronic Publication: 2023 Apr 17.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 safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.

  • Authors : Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, New York, NY, 10029, USA. .; Giugliani R

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

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Dec 14; Vol. 17 (1), pp. 437. Date of Electronic Publication: 2022 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

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.

  • Authors : Kubaski F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil.

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

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 08; Vol. 17 (1), pp. 407. Date of Electronic Publication: 2022 Nov 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

Health insurance literacy and health services access barriers in Niemann-Pick disease: the patient and caregiver voice.

  • Authors : Diaz GA; Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1428 Madison Avenue, 1st Floor, Room AB1-12, New York, NY, 10029, USA. .; Crowe J

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

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 02; Vol. 17 (1), pp. 332. Date of Electronic Publication: 2022 Sep 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

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.

  • Authors : McGovern MM; Hsc T-4 Ste 169, Stony Brook University School of Medicine, Stony Brook, NY, 11794, USA. .; Wasserstein MP

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

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 May 10; Vol. 16 (1), pp. 212. Date of Electronic Publication: 2021 May 10.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  136 results for ""NIEMANN-Pick diseases""