BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 28480683)

  • 1. Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl.
    Jaxybayeva A; Kenzhegulova R; Baygazyieva L; Cainelli F; Vento S
    Isr Med Assoc J; 2017 Apr; 19(4):262-264. PubMed ID: 28480683
    [No Abstract]   [Full Text] [Related]  

  • 2. Misdiagnosis of Niemann-Pick disease type C as Gaucher disease.
    Lo SM; McNamara J; Seashore MR; Mistry PK
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(0 3):S429-33. PubMed ID: 20882348
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Low ceruloplasmin in a patient with Niemann-Pick type C disease.
    Connemann BJ; Gahr M; Schmid M; Runz H; Freudenmann RW
    J Clin Neurosci; 2012 Apr; 19(4):620-1. PubMed ID: 22269206
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Niemann-Pick diseases in adults].
    Sedel F
    Rev Med Interne; 2007 Dec; 28 Suppl 4():S292-3. PubMed ID: 17961863
    [No Abstract]   [Full Text] [Related]  

  • 5. Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
    Dvorakova L; Sikora J; Hrebicek M; Hulkova H; Bouckova M; Stolnaja L; Elleder M
    J Inherit Metab Dis; 2006 Aug; 29(4):591. PubMed ID: 16802107
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Niemann-Pick disease--a rare disease in children's hepatology (a clinical case)].
    Berezenko VS; Dyba MB
    Eksp Klin Gastroenterol; 2014; (8):101-5. PubMed ID: 25911921
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.
    Godeiro-Júnior C; Inaoka RJ; Barbosa MR; Silva MR; Aguiar Pde C; Barsottini O
    Mov Disord; 2006 Dec; 21(12):2270-2. PubMed ID: 17044092
    [No Abstract]   [Full Text] [Related]  

  • 8. Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C.
    Gupta DK; Blanco-Palmero VA; Chung WK; Kuo SH
    Tremor Other Hyperkinet Mov (N Y); 2018; 8():560. PubMed ID: 29971198
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis].
    Vanier MT
    Arch Pediatr; 2010 Jun; 17 Suppl 2():S41-4. PubMed ID: 20620894
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.
    Mavridou I; Cozar M; Douzgou S; Xaidara A; Lianou D; Vanier MT; Dimitriou E; Grinberg D; Vilageliu L; Michelakakis H
    Clin Genet; 2014 Jun; 85(6):543-7. PubMed ID: 23701245
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [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]  

  • 13. 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]  

  • 14. The unique case of the Niemann-Pick type C cholesterol storage disorder.
    Klein AD; Alvarez A; Zanlungo S
    Pediatr Endocrinol Rev; 2014 Sep; 12 Suppl 1():166-75. PubMed ID: 25345099
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [New mutation in a young woman diagnosed with Niemann-Pick disease type C].
    Lario A; de Miguel C; Ojeda E; Gil S; Coll MJ; Alfonso P
    Med Clin (Barc); 2016 Jun; 146(11):494-6. PubMed ID: 27016452
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
    Ribas GS; Souza HM; de Mari J; Deon M; Mescka C; Saraiva-Pereira ML; Kessler R; Trapp F; Michelin K; Burin M; Vargas CR; Giugliani R
    Clin Chim Acta; 2016 Aug; 459():57-62. PubMed ID: 27234403
    [No Abstract]   [Full Text] [Related]  

  • 17. Early miglustat therapy in infantile Niemann-Pick disease type C.
    Di Rocco M; Dardis A; Madeo A; Barone R; Fiumara A
    Pediatr Neurol; 2012 Jul; 47(1):40-3. PubMed ID: 22704015
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.
    Degtyareva AV; Mikhailova SV; Zakharova EY; Tumanova EL; Puchkova AA
    J Med Case Rep; 2016 Jun; 10(1):143. PubMed ID: 27250337
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures.
    Miao N; Lu X; O'Grady NP; Yanjanin N; Porter FD; Quezado ZM
    J Child Neurol; 2012 Dec; 27(12):1541-6. PubMed ID: 22378675
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A 2-year-old girl with failure to thrive, progressive hepatosplenomegaly and progressive encephalopathy.
    Hung PL; Chang YC; Huang LT; Lui CC; Lin JW; Huang SC
    Acta Paediatr Taiwan; 2003; 44(1):1-3. PubMed ID: 12800374
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.