Bach G - Search Results

1

Mucolipidosis type IV: abnormal transport of lipids to lysosomes.

Bargal R, Bach G. Bargal R, et al. Among authors: bach g. J Inherit Metab Dis. 1997 Sep;20(5):625-32. doi: 10.1023/a:1005362123443. J Inherit Metab Dis. 1997. PMID: 9323557

2

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. Bach G, et al. Hum Mutat. 2005 Dec;26(6):591. doi: 10.1002/humu.9385. Hum Mutat. 2005. PMID: 16287144

3

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. Zeigler M, et al. Among authors: bach g. Prenat Diagn. 1992 Dec;12(12):1037-42. doi: 10.1002/pd.1970121209. Prenat Diagn. 1992. PMID: 1287639

4

Phosphatidylcholine storage in mucolipidosis IV.

Bargal R, Bach G. Bargal R, et al. Among authors: bach g. Clin Chim Acta. 1989 May 15;181(2):167-74. doi: 10.1016/0009-8981(89)90184-8. Clin Chim Acta. 1989. PMID: 2736780

5

Phospholipids accumulation in mucolipidosis IV cultured fibroblasts.

Bargal R, Bach G. Bargal R, et al. Among authors: bach g. J Inherit Metab Dis. 1988;11(2):144-50. doi: 10.1007/BF01799863. J Inherit Metab Dis. 1988. PMID: 3139925

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. Raas-Rothschild A, et al. Among authors: bach g. Eur J Hum Genet. 1999 May-Jun;7(4):496-8. doi: 10.1038/sj.ejhg.5200277. Eur J Hum Genet. 1999. PMID: 10352940

7

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. Bargal R, et al. Among authors: bach g. Nat Genet. 2000 Sep;26(1):118-23. doi: 10.1038/79095. Nat Genet. 2000. PMID: 10973263

8

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. Bargal R, et al. Among authors: bach g. Hum Mutat. 2001 May;17(5):397-402. doi: 10.1002/humu.1115. Hum Mutat. 2001. PMID: 11317355

9

Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin.

Bargal R, Goebel HH, Latta E, Bach G. Bargal R, et al. Among authors: bach g. Neuropediatrics. 2002 Aug;33(4):199-202. doi: 10.1055/s-2002-34496. Neuropediatrics. 2002. PMID: 12368990

10

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A. Bargal R, et al. Among authors: bach g. Mol Genet Metab. 2006 Aug;88(4):359-63. doi: 10.1016/j.ymgme.2006.03.003. Epub 2006 Apr 21. Mol Genet Metab. 2006. PMID: 16630736

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