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Items: 16

1.

Clinical implementation of gene panel testing for lysosomal storage diseases.

Gheldof A, Seneca S, Stouffs K, Lissens W, Jansen A, Laeremans H, Verloo P, Schoonjans AS, Meuwissen M, Barca D, Martens G, De Meirleir L.

Mol Genet Genomic Med. 2019 Feb;7(2):e00527. doi: 10.1002/mgg3.527. Epub 2018 Dec 11.

2.

Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5'-splice site mutation of human cathepsin A gene.

Yamazaki N, Kanazawa K, Kimura M, Ike H, Shinomiya M, Tanaka S, Shinohara Y, Minakawa N, Itoh K, Takiguchi Y.

Gene. 2018 Nov 30;677:41-48. doi: 10.1016/j.gene.2018.07.030. Epub 2018 Jul 24.

PMID:
30010039
3.

New CTSA mutation in early infantile galactosialidosis.

Aldámiz-Echevarría L, Couce ML, Villate O, Fernández-Marmiesse A, Piñán MÁ.

Pediatr Int. 2018 Aug;60(8):761-762. doi: 10.1111/ped.13604. Epub 2018 Jul 10. No abstract available.

PMID:
29987886
4.

Turning the backbone into an ankylosed concrete-like structure: Case report.

Kaissi AA, Chehida FB, Grill F, Ganger R, Kircher SG.

Medicine (Baltimore). 2018 Apr;97(15):e0278. doi: 10.1097/MD.0000000000010278.

5.

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.

Bruwer Z, Al Riyami N, Al Dughaishi T, Al Murshedi F, Al Sayegh A, Al Kindy A, Meftah D, Al Kharusi K, Al Foori A, Al Yarubi N, Scott P, Al-Thihli K.

J Perinat Med. 2018 Nov 27;46(9):968-974. doi: 10.1515/jpm-2017-0124.

PMID:
28822227
6.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.

PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.

7.

A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene.

Kartal A, Aydın K.

Metab Brain Dis. 2017 Aug;32(4):973-975. doi: 10.1007/s11011-017-0042-0. Epub 2017 May 30.

PMID:
28555253
8.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Piraud M, Pettazzoni M, Menegaut L, Caillaud C, Nadjar Y, Vianey-Saban C, Froissart R.

Rapid Commun Mass Spectrom. 2017 Jun 15;31(11):951-963. doi: 10.1002/rcm.7860.

PMID:
28370531
9.

Inherited diseases caused by mutations in cathepsin protease genes.

Ketterer S, Gomez-Auli A, Hillebrand LE, Petrera A, Ketscher A, Reinheckel T.

FEBS J. 2017 May;284(10):1437-1454. doi: 10.1111/febs.13980. Epub 2017 Jan 12. Review.

10.

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Bugiani M, Kevelam SH, Bakels HS, Waisfisz Q, Ceuterick-de Groote C, Niessen HW, Abbink TE, Lesnik Oberstein SA, van der Knaap MS.

Neurology. 2016 Oct 25;87(17):1777-1786. Epub 2016 Sep 24. Erratum in: Neurology. 2017 Jan 17;88(3):335.

PMID:
27664989
11.

An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?

Erdol S, Ture M, Baytan B, Yakut T, Saglam H.

J Pediatr Hematol Oncol. 2016 Nov;38(8):661-662.

PMID:
27769081
12.

Lysosomal localization of Japanese medaka (Oryzias latipes) Neu1 sialidase and its highly conserved enzymatic profiles with human.

Ryuzono S, Takase R, Oishi K, Ikeda A, Chigwechokha PK, Funahashi A, Komatsu M, Miyagi T, Shiozaki K.

Gene. 2016 Jan 10;575(2 Pt 2):513-523. doi: 10.1016/j.gene.2015.09.028. Epub 2015 Oct 8.

PMID:
26432003
13.

Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.

Hossain MA, Higaki K, Shinpo M, Nanba E, Suzuki Y, Ozono K, Sakai N.

Brain Dev. 2016 Feb;38(2):175-80. doi: 10.1016/j.braindev.2015.07.006. Epub 2015 Aug 7.

PMID:
26259553
14.

A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.

Kostadinov S, Shah BA, Alroy J, Phornphutkul C.

Pediatr Dev Pathol. 2014 Nov-Dec;17(6):474-7. doi: 10.2350/14-05-1500-CR.1. Epub 2014 Jul 30.

PMID:
25075748
15.

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR.

Eur J Med Genet. 2014 Jul;57(7):339-344. doi: 10.1016/j.ejmg.2014.04.005. Epub 2014 Apr 24.

16.

Lysosomal multienzyme complex: pros and cons of working together.

Bonten EJ, Annunziata I, d'Azzo A.

Cell Mol Life Sci. 2014 Jun;71(11):2017-32. doi: 10.1007/s00018-013-1538-3. Epub 2013 Dec 15. Review.

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