Etiology
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Sharma R,
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Santra S,
Crushell E,
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Mathieson T,
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Eto K,
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Chamova T,
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Bojinova V,
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Ginocchio VM,
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Mol Genet Metab
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Patterson MC,
Hendriksz CJ,
Walterfang M,
Sedel F,
Vanier MT,
Wijburg F;
NP-C Guidelines Working Group
Mol Genet Metab
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Diagnosis
Berry-Kravis E
Semin Pediatr Neurol
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Di Lazzaro V,
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Vanier MT
Orphanet J Rare Dis
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Therapy
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Int J Clin Pharm
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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
Imanishi A,
Kawazoe T,
Hamada Y,
Kumagai T,
Tsutsui K,
Sakai N,
Eto K,
Noguchi A,
Shimizu T,
Takahashi T,
Han G,
Mishima K,
Kanbayashi T,
Kondo H
Orphanet J Rare Dis
2020 Sep 29;15(1):269.
doi: 10.1186/s13023-020-01531-4.
PMID: 32993765Free PMC Article
Ginocchio VM,
D'Amico A,
Bertini E,
Ceravolo F,
Dardis A,
Verrigni D,
Bembi B,
Dionisi-Vici C,
Deodato F
Mol Genet Metab
2013 Nov;110(3):329-35.
Epub 2013 Aug 7
doi: 10.1016/j.ymgme.2013.07.019.
PMID: 23973268
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Prognosis
Gutić M,
Milosavljević MN,
Janković SM
Int J Clin Pharm
2022 Dec;44(6):1442-1453.
Epub 2022 Oct 15
doi: 10.1007/s11096-022-01491-8.
PMID: 36243834
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
Patterson MC,
Mengel E,
Wijburg FA,
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Vanier MT,
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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
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
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.
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PMID: 32222928Free 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
Vanier MT
Neurochem Res
1999 Apr;24(4):481-9.
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PMID: 10227680