National Niemann-Pick Disease Foundation

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Publications

Citations

1.2K

Authors

Location

Fort Atkinson, United States

Also known as NNPDF · NPD

National Niemann-Pick Disease Foundation is a nonprofit institution in Fort Atkinson, United States known for genetic disorders, pediatrics, and medicine.

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Top concepts

PediatricsGenetic DisordersMedicineLife SciencesHuman GeneticsEnzyme DeficienciesMolecular PathologyPediatric NeurologyLysosomal Storage DisordersNiemann-pick Disease Type C

Publications

The National Niemann–Pick C1 disease database: Report of clinical features and health problems

William S. Garver, Gordon A. Francis, David Jelínek et al. · American Journal of Medical Genetics Part A · 2007 · 161 citations

Medicine, Neurology, Pediatrics +13

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

William S. Garver, David Jelínek, F. John Meaney et al. · Journal of Lipid Research · 2009 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake et al. · Orphanet Journal of Rare Diseases · 2023 · 88 citations · Full text

Medicine, Internal Medicine, Pediatrics +13

Long‐term survival outcomes of patients with <scp>Niemann‐Pick</scp> disease type C receiving miglustat treatment: A large retrospective observational study

Marc C. Patterson, William S. Garver, R. Giugliani et al. · Journal of Inherited Metabolic Disease · 2020 · 73 citations · Full text

Medicine, Neurology, Pediatrics +8

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk et al. · Scientific Reports · 2021 · 24 citations · Full text

Life Sciences, Pathobiology, Pediatrics +15

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Authors

DD
Daniel de Vicente Corbeira
National Niemann-Pick Disease Foundation, United States
2 publications · 91 citations
2
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CM
Cate M. Walsh Vockley
National Niemann-Pick Disease Foundation, United States
2 publications · 106 citations
2
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LD
L. De Baere
National Niemann-Pick Disease Foundation, United States
5 publications · 12 citations
1
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