Etiology
Bolton SC,
Soran V,
Marfa MP,
Imrie J,
Gissen P,
Jahnova H,
Sharma R,
Jones S,
Santra S,
Crushell E,
Stampfer M,
Coll MJ,
Dawson C,
Mathieson T,
Green J,
Dardis A,
Bembi B,
Patterson MC,
Vanier MT,
Geberhiwot T
Orphanet J Rare Dis
2022 Feb 14;17(1):51.
doi: 10.1186/s13023-022-02200-4.
PMID: 35164809Free PMC Article
Burton BK,
Ellis AG,
Orr B,
Chatlani S,
Yoon K,
Shoaff JR,
Gallo D
Mol Genet Metab
2021 Sep-Oct;134(1-2):182-187.
Epub 2021 Jul 1
doi: 10.1016/j.ymgme.2021.06.011.
PMID: 34304992
Pineda M,
Walterfang M,
Patterson MC
Orphanet J Rare Dis
2018 Aug 15;13(1):140.
doi: 10.1186/s13023-018-0844-0.
PMID: 30111334Free PMC Article
Winstone AM,
Stellitano LA,
Verity CM
Dev Med Child Neurol
2017 Sep;59(9):965-972.
Epub 2017 Jun 2
doi: 10.1111/dmcn.13476.
PMID: 28574146
Patterson MC,
Hendriksz CJ,
Walterfang M,
Sedel F,
Vanier MT,
Wijburg F;
NP-C Guidelines Working Group
Mol Genet Metab
2012 Jul;106(3):330-44.
Epub 2012 May 8
doi: 10.1016/j.ymgme.2012.03.012.
PMID: 22572546
Diagnosis
Vo ML,
Levy T,
Lakhani S,
Wang C,
Ross ME
Mol Genet Genomic Med
2022 Apr;10(4):e1906.
Epub 2022 Feb 22
doi: 10.1002/mgg3.1906.
PMID: 35192242Free PMC Article
Berry-Kravis E
Semin Pediatr Neurol
2021 Apr;37:100879.
Epub 2021 Feb 12
doi: 10.1016/j.spen.2021.100879.
PMID: 33892845
Di Lazzaro V,
Marano M,
Florio L,
De Santis S
Int J Neurosci
2016 Nov;126(11):963-71.
Epub 2016 Mar 29
doi: 10.3109/00207454.2016.1161623.
PMID: 26998855
Mengel E,
Klünemann HH,
Lourenço CM,
Hendriksz CJ,
Sedel F,
Walterfang M,
Kolb SA
Orphanet J Rare Dis
2013 Oct 17;8:166.
doi: 10.1186/1750-1172-8-166.
PMID: 24135395Free PMC Article
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Therapy
Bolton SC,
Soran V,
Marfa MP,
Imrie J,
Gissen P,
Jahnova H,
Sharma R,
Jones S,
Santra S,
Crushell E,
Stampfer M,
Coll MJ,
Dawson C,
Mathieson T,
Green J,
Dardis A,
Bembi B,
Patterson MC,
Vanier MT,
Geberhiwot T
Orphanet J Rare Dis
2022 Feb 14;17(1):51.
doi: 10.1186/s13023-022-02200-4.
PMID: 35164809Free PMC Article
Burton BK,
Ellis AG,
Orr B,
Chatlani S,
Yoon K,
Shoaff JR,
Gallo D
Mol Genet Metab
2021 Sep-Oct;134(1-2):182-187.
Epub 2021 Jul 1
doi: 10.1016/j.ymgme.2021.06.011.
PMID: 34304992
Pineda M,
Walterfang M,
Patterson MC
Orphanet J Rare Dis
2018 Aug 15;13(1):140.
doi: 10.1186/s13023-018-0844-0.
PMID: 30111334Free PMC Article
Winstone AM,
Stellitano LA,
Verity CM
Dev Med Child Neurol
2017 Sep;59(9):965-972.
Epub 2017 Jun 2
doi: 10.1111/dmcn.13476.
PMID: 28574146
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Prognosis
Geberhiwot T,
Moro A,
Dardis A,
Ramaswami U,
Sirrs S,
Marfa MP,
Vanier MT,
Walterfang M,
Bolton S,
Dawson C,
Héron B,
Stampfer M,
Imrie J,
Hendriksz C,
Gissen P,
Crushell E,
Coll MJ,
Nadjar Y,
Klünemann H,
Mengel E,
Hrebicek M,
Jones SA,
Ory D,
Bembi B,
Patterson M;
International Niemann-Pick Disease Registry (INPDR)
Orphanet J Rare Dis
2018 Apr 6;13(1):50.
doi: 10.1186/s13023-018-0785-7.
PMID: 29625568Free PMC Article
Di Lazzaro V,
Marano M,
Florio L,
De Santis S
Int J Neurosci
2016 Nov;126(11):963-71.
Epub 2016 Mar 29
doi: 10.3109/00207454.2016.1161623.
PMID: 26998855
Mengel E,
Klünemann HH,
Lourenço CM,
Hendriksz CJ,
Sedel F,
Walterfang M,
Kolb SA
Orphanet J Rare Dis
2013 Oct 17;8:166.
doi: 10.1186/1750-1172-8-166.
PMID: 24135395Free PMC Article
Patterson MC,
Hendriksz CJ,
Walterfang M,
Sedel F,
Vanier MT,
Wijburg F;
NP-C Guidelines Working Group
Mol Genet Metab
2012 Jul;106(3):330-44.
Epub 2012 May 8
doi: 10.1016/j.ymgme.2012.03.012.
PMID: 22572546
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Clinical prediction guides
Havla J,
Moser M,
Sztatecsny C,
Lotz-Havla AS,
Maier EM,
Hizli B,
Schinner R,
Kümpfel T,
Strupp M,
Bremova-Ertl T,
Schneider SA
J Neurol
2020 Jul;267(7):2070-2082.
Epub 2020 Mar 28
doi: 10.1007/s00415-020-09796-2.
PMID: 32222928Free PMC Article
Pineda M,
Walterfang M,
Patterson MC
Orphanet J Rare Dis
2018 Aug 15;13(1):140.
doi: 10.1186/s13023-018-0844-0.
PMID: 30111334Free PMC Article
Geberhiwot T,
Moro A,
Dardis A,
Ramaswami U,
Sirrs S,
Marfa MP,
Vanier MT,
Walterfang M,
Bolton S,
Dawson C,
Héron B,
Stampfer M,
Imrie J,
Hendriksz C,
Gissen P,
Crushell E,
Coll MJ,
Nadjar Y,
Klünemann H,
Mengel E,
Hrebicek M,
Jones SA,
Ory D,
Bembi B,
Patterson M;
International Niemann-Pick Disease Registry (INPDR)
Orphanet J Rare Dis
2018 Apr 6;13(1):50.
doi: 10.1186/s13023-018-0785-7.
PMID: 29625568Free PMC Article
Nevsimalova S,
Malinova V
Curr Neurol Neurosci Rep
2015 Jan;15(1):522.
doi: 10.1007/s11910-014-0522-0.
PMID: 25434476
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article