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 *

124 related articles for article (PubMed ID: 8135288)

  • 1. Mucolipidosis type IV: a mild form with late onset.
    Reis S; Sheffer RN; Merin S; Luder AS; Bach G
    Am J Med Genet; 1993 Sep; 47(3):392-4. PubMed ID: 8135288
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mucolipidosis type IV: clinical manifestations and natural history.
    Chitayat D; Meunier CM; Hodgkinson KA; Silver K; Flanders M; Anderson IJ; Little JM; Whiteman DA; Carpenter S
    Am J Med Genet; 1991 Dec; 41(3):313-8. PubMed ID: 1789285
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mucolipidosis type IV: clinical spectrum and natural history.
    Amir N; Zlotogora J; Bach G
    Pediatrics; 1987 Jun; 79(6):953-9. PubMed ID: 2438637
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mucolipidosis type IV.
    Bach G
    Mol Genet Metab; 2001 Jul; 73(3):197-203. PubMed ID: 11461186
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of the gene causing mucolipidosis type IV.
    Bargal R; Avidan N; Ben-Asher E; Olender Z; Zeigler M; Frumkin A; Raas-Rothschild A; Glusman G; Lancet D; Bach G
    Nat Genet; 2000 Sep; 26(1):118-23. PubMed ID: 10973263
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population.
    Raas-Rothschild A; Bargal R; DellaPergola S; Zeigler M; Bach G
    Eur J Hum Genet; 1999; 7(4):496-8. PubMed ID: 10352940
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel.
    Gordon RM; Marchese T
    J Midwifery Womens Health; 2004; 49(4):359-60. PubMed ID: 15236718
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sialidosis (mucolipidosis I).
    Durand P; Gatti R; Cavalieri S; Borrone C; Tondeur M; Michalski JC; Strecker G
    Helv Paediatr Acta; 1977 Nov; 32(4-5):391-400. PubMed ID: 617984
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mucolipidosis IV: ultrastructural diagnosis of a recently defined genetic disorder.
    Livni N; Merin S
    Arch Pathol Lab Med; 1978 Nov; 102(11):600-4. PubMed ID: 581454
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
    Bach G; Webb MB; Bargal R; Zeigler M; Ekstein J
    Hum Mutat; 2005 Dec; 26(6):591. PubMed ID: 16287144
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.
    Dobrovolny R; Liskova P; Ledvinova J; Poupetova H; Asfaw B; Filipec M; Jirsova K; Kraus J; Elleder M
    Am J Ophthalmol; 2007 Apr; 143(4):663-71. PubMed ID: 17239335
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mucolipidosis type IV: accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis.
    Zeigler M; Bargal R; Suri V; Meidan B; Bach G
    Prenat Diagn; 1992 Dec; 12(12):1037-42. PubMed ID: 1287639
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.
    Tüysüz B; Goldin E; Metin B; Korkmaz B; Yalçinkaya C
    Brain Dev; 2009 Oct; 31(9):702-5. PubMed ID: 19006653
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
    Bargal R; Avidan N; Olender T; Ben Asher E; Zeigler M; Raas-Rothschild A; Frumkin A; Ben-Yoseph O; Friedlender Y; Lancet D; Bach G
    Hum Mutat; 2001 May; 17(5):397-402. PubMed ID: 11317355
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mucolipidosis type IV: abnormal transport of lipids to lysosomes.
    Bargal R; Bach G
    J Inherit Metab Dis; 1997 Sep; 20(5):625-32. PubMed ID: 9323557
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin.
    Bargal R; Goebel HH; Latta E; Bach G
    Neuropediatrics; 2002 Aug; 33(4):199-202. PubMed ID: 12368990
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mucolipidosis type IV. Presentation of a mild variant.
    Casteels I; Taylor DS; Lake BD; Spalton DJ; Bach G
    Ophthalmic Paediatr Genet; 1992 Dec; 13(4):205-10. PubMed ID: 1488220
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A muscle disorder as presenting symptom in a child with mucolipidosis IV.
    Zlotogora J; Ben Ezra D; Livni N; Ashkenazi A; Cohen T
    Neuropediatrics; 1983 May; 14(2):104-5. PubMed ID: 6877526
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mucolipidosis IV consists of one complementation group.
    Goldin E; Cooney A; Kaneski CR; Brady RO; Schiffmann R
    Proc Natl Acad Sci U S A; 1999 Jul; 96(15):8562-6. PubMed ID: 10411915
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A mild variant of mucolipidosis type 4 (ML4).
    Lake BD; Milla PJ; Taylor DS; Young EP
    Birth Defects Orig Artic Ser; 1982; 18(6):391-404. PubMed ID: 7171767
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.