BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 32317543)

  • 41. Sea-blue histiocyte syndrome with cutaneous involvement. Case report with ultrastructural findings.
    Zina AM; Bundino S; Pippione M
    Dermatologica; 1987; 174(1):39-44. PubMed ID: 3803674
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.
    Rohanizadegan M; Abdo SM; O'Donnell-Luria A; Mihalek I; Chen P; Sanders M; Leeman K; Cho M; Hung C; Bodamer O
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28802248
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. 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]  

  • 45. [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]  

  • 46. Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
    Yang CC; Su YN; Chiou PC; Fietz MJ; Yu CL; Hwu WL; Lee MJ
    J Neurol Neurosurg Psychiatry; 2005 Apr; 76(4):592-5. PubMed ID: 15774455
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.
    Viana MB; Giugliani R; Leite VH; Barth ML; Lekhwani C; Slade CM; Fensom A
    J Med Genet; 1990 Aug; 27(8):499-504. PubMed ID: 2120445
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.
    Yoon HJ; Jeong H; Lee HH; Jang S
    J Neurochem; 2021 Mar; 156(6):967-978. PubMed ID: 32880929
    [TBL] [Abstract][Full Text] [Related]  

  • 49. [Type B Niemann-Pick disease and sea-blue histiocytes syndrome].
    Rodon P; Ramain JP; Bruandet P; Piedon A; Akli J; Penot J
    Rev Med Interne; 1991; 12(4):299-302. PubMed ID: 1759071
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Type C Niemann-Pick disease: report of a Chinese case.
    Lyu RK; Ko YM; Hung IJ; Lu CS
    J Formos Med Assoc; 1993 Sep; 92(9):829-31. PubMed ID: 7904866
    [TBL] [Abstract][Full Text] [Related]  

  • 51. [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]  

  • 52. [Atypical course of type-A Niemann-Pick disease].
    Cihula J; Elleder M
    Sb Ved Pr Lek Fak Karlovy Univerzity Hradci Kralove; 1984; 27(4):363-75. PubMed ID: 6599814
    [No Abstract]   [Full Text] [Related]  

  • 53. Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.
    Kılıç Yıldırım G; Yarar C; Şeker Yılmaz B; Ceylaner S
    J Pediatr Endocrinol Metab; 2022 Apr; 35(4):535-541. PubMed ID: 34883004
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Rapid whole-genome sequencing identifies a novel homozygous
    Hildreth A; Wigby K; Chowdhury S; Nahas S; Barea J; Ordonez P; Batalov S; Dimmock D; Kingsmore S;
    Cold Spring Harb Mol Case Stud; 2017 Sep; 3(5):. PubMed ID: 28550066
    [TBL] [Abstract][Full Text] [Related]  

  • 55. [Clinical features and gene mutation analysis of patients with Niemann-Pick disease type C].
    Ren SC; Tian ZX; Deng YX; Wang YJ; Wu XJ; Zhang YZ; Gao BQ
    Zhonghua Yi Xue Za Zhi; 2018 Jan; 98(4):284-288. PubMed ID: 29397615
    [No Abstract]   [Full Text] [Related]  

  • 56. Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.
    Lee SY; Lee HJ; Kim SH; Jeong YJ; Jin HK; Bae JS; Cheon SM; Kim JW
    J Korean Med Sci; 2016 Jul; 31(7):1168-72. PubMed ID: 27366019
    [TBL] [Abstract][Full Text] [Related]  

  • 57. [Adult Niemann-Pick disease: a 26 years follow-up. Report of a case with isolated visceral involvement, excess of tissue sphingomyelin, and deficient sphingomyelinase activity (author's transl)].
    Brière J; Calman F; Lageron A; Hinglais N; Emerit J; Bernard J
    Nouv Rev Fr Hematol Blood Cells; 1976; 16(2):185-202. PubMed ID: 184433
    [TBL] [Abstract][Full Text] [Related]  

  • 58. 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]  

  • 59. Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis.
    Sharma P; Kar R; Dutta S; Pati HP; Saxena R
    Eur J Histochem; 2009 Sep; 53(3):183-6. PubMed ID: 19864213
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Peripheral neuropathy as a very rare symptom in a patient with Niemann-Pick type C with negative enzymatic evaluation: a case report.
    Barzegar M; Valaee F; Ghoreishizadeh S
    J Med Case Rep; 2022 Jan; 16(1):23. PubMed ID: 35016719
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.