These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 31933160)

  • 1. Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison.
    Anheim M; Torres Martin JV; Kolb SA
    Cerebellum; 2020 Apr; 19(2):243-251. PubMed ID: 31933160
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools.
    Synofzik M; Fleszar Z; Schöls L; Just J; Bauer P; Torres Martin JV; Kolb S
    J Neurol; 2016 Oct; 263(10):1911-8. PubMed ID: 27314965
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.
    Pineda M; Juríčková K; Karimzadeh P; Kolniková M; Malinová V; Torres J; Kolb SA
    Orphanet J Rare Dis; 2019 Jul; 14(1):161. PubMed ID: 31266511
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Adult onset Niemann-Pick type C disease and psychosis: literature review].
    Maubert A; Hanon C; Metton JP
    Encephale; 2013 Oct; 39(5):315-9. PubMed ID: 23928063
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Psychiatric disorders in adult form of Niemann-Pick disease type C].
    Maubert A; Hanon C; Sedel F
    Encephale; 2016 Jun; 42(3):208-13. PubMed ID: 26727648
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Niemann-Pick type C disease and psychosis: Two siblings].
    Maubert A; Hanon C; Metton JP
    Encephale; 2015 Jun; 41(3):238-43. PubMed ID: 25238906
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum of Movement Disorders in Niemann-Pick Disease Type C.
    Devaraj R; Mahale RR; Sindhu DM; Stezin A; Kamble N; Holla VV; Netravathi M; Yadav R; Pal PK
    Tremor Other Hyperkinet Mov (N Y); 2022; 12():28. PubMed ID: 36187872
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
    Pineda M; Mengel E; Jahnová H; Héron B; Imrie J; Lourenço CM; van der Linden V; Karimzadeh P; Valayannopoulos V; Jesina P; Torres JV; Kolb SA
    BMC Pediatr; 2016 Jul; 16():107. PubMed ID: 27449637
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.
    Ries M; Schaefer E; Lührs T; Mani L; Kuhn J; Vanier MT; Krummenauer F; Gal A; Beck M; Mengel E
    J Inherit Metab Dis; 2006 Oct; 29(5):647-52. PubMed ID: 16972172
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
    Jahnova H; Dvorakova L; Vlaskova H; Hulkova H; Poupetova H; Hrebicek M; Jesina P
    Orphanet J Rare Dis; 2014 Sep; 9():140. PubMed ID: 25236789
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.
    Wraith JE; Sedel F; Pineda M; Wijburg FA; Hendriksz CJ; Fahey M; Walterfang M; Patterson MC; Chadha-Boreham H; Kolb SA
    J Inherit Metab Dis; 2014 Jan; 37(1):93-101. PubMed ID: 23793527
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.
    Maekawa M; Jinnoh I; Narita A; Iida T; Saigusa D; Iwahori A; Nittono H; Okuyama T; Eto Y; Ohno K; Clayton PT; Yamaguchi H; Mano N
    J Lipid Res; 2019 Dec; 60(12):2074-2081. PubMed ID: 31586016
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.
    Vo ML; Levy T; Lakhani S; Wang C; Ross ME
    Mol Genet Genomic Med; 2022 Apr; 10(4):e1906. PubMed ID: 35192242
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
    De Castro-Orós I; Irún P; Cebolla JJ; Rodriguez-Sureda V; Mallén M; Pueyo MJ; Mozas P; Dominguez C; Pocoví M;
    J Transl Med; 2017 Feb; 15(1):43. PubMed ID: 28222799
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
    Kawazoe T; Yamamoto T; Narita A; Ohno K; Adachi K; Nanba E; Noguchi A; Takahashi T; Maekawa M; Eto Y; Ogawa M; Murata M; Takahashi Y
    BMC Neurol; 2018 Aug; 18(1):117. PubMed ID: 30119649
    [TBL] [Abstract][Full Text] [Related]  

  • 16. N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.
    Fields T; M Bremova T; Billington I; Churchill GC; Evans W; Fields C; Galione A; Kay R; Mathieson T; Martakis K; Patterson M; Platt F; Factor M; Strupp M
    Trials; 2023 May; 24(1):361. PubMed ID: 37248494
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A recessive ataxia diagnosis algorithm for the next generation sequencing era.
    Renaud M; Tranchant C; Martin JVT; Mochel F; Synofzik M; van de Warrenburg B; Pandolfo M; Koenig M; Kolb SA; Anheim M;
    Ann Neurol; 2017 Dec; 82(6):892-899. PubMed ID: 29059497
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Determination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease.
    Kannenberg F; Nofer JR; Schulte E; Reunert J; Marquardt T; Fobker M
    J Steroid Biochem Mol Biol; 2017 May; 169():54-60. PubMed ID: 26940355
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.
    Maekawa M; Narita A; Jinnoh I; Iida T; Marquardt T; Mengel E; Eto Y; Clayton PT; Yamaguchi H; Mano N
    Clin Chim Acta; 2019 Jul; 494():58-63. PubMed ID: 30876856
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.
    Alavi A; Nafissi S; Shamshiri H; Nejad MM; Elahi E
    Mol Genet Metab; 2013; 110(1-2):139-44. PubMed ID: 23791309
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.