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Results: 1 to 20 of 348

Similar articles for PubMed (Select 17712606)

1.

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis.

Brunetti-Pierri N, Mian A, Luetchke R, Graham BH.

J Inherit Metab Dis. 2007 Oct;30(5):823. Epub 2007 Aug 22.

PMID:
17712606
2.

Diagnosis of unsuspected fetal metabolic storage disease by routine placental examination.

Roberts DJ, Ampola MG, Lage JM.

Pediatr Pathol. 1991 Jul-Aug;11(4):647-56.

PMID:
1946081
3.

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Georgiou T, Stylianidou G, Anastasiadou V, Caciotti A, Campos Y, Zammarchi E, Morrone A, D'azzo A, Drousiotou A.

Genet Test. 2005 Summer;9(2):126-32.

PMID:
15943552
4.

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E.

Hum Mutat. 2000;15(4):354-66.

PMID:
10737981
6.

Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications.

Yamato O, Jo EO, Satoh H, Yamauchi T, Kobayashi A, Yamasaki M, Maede Y.

Vet Clin Pathol. 2006 Mar;35(1):91-4.

PMID:
16511797
7.

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A.

Hum Mutat. 2005 Mar;25(3):285-92.

PMID:
15714521
8.
9.

GM1-gangliosidosis presenting as nonimmune hydrops fetalis: a case report.

Tasso MJ, Martinez-Gutierrez A, Carrascosa C, Vazquez S, Tebar R.

J Perinat Med. 1996;24(5):445-9.

PMID:
8950724
10.

Beta-galactosidase deficiency in a Korat cat: a new form of feline GM1-gangliosidosis.

De Maria R, Divari S, Bo S, Sonnio S, Lotti D, Capucchio MT, Castagnaro M.

Acta Neuropathol. 1998 Sep;96(3):307-14.

PMID:
9754965
11.

Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.

Gort L, Santamaria R, Grinberg D, Vilageliu L, Chabás A.

Clin Genet. 2007 Aug;72(2):109-11.

PMID:
17661814
12.

Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis.

Matsuda J, Suzuki O, Oshima A, Ogura A, Noguchi Y, Yamamoto Y, Asano T, Takimoto K, Sukegawa K, Suzuki Y, Naiki M.

Glycoconj J. 1997 Sep;14(6):729-36.

PMID:
9337086
13.

Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts.

D'Agrosa RM, Hubbes M, Zhang S, Shankaran R, Callahan JW.

Biochem J. 1992 Aug 1;285 ( Pt 3):833-8.

14.

Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis.

Denis R, Wayenberg JL, Vermeulen M, Gorus F, Gerlo E, Lissens W, Liebaers I, Jauniaux E, Vamos E.

Acta Clin Belg. 1996;51(5):320-7.

PMID:
8950839
15.

Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.

Kwak JE, Son MY, Son YS, Son MJ, Cho YS.

Biochem Biophys Res Commun. 2015 Feb 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.

PMID:
25600812
16.

Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.

Ishii N, Oshima A, Sakuraba H, Fukuyama Y, Suzuki Y.

Pediatr Neurol. 1994 Jun;10(4):317-9.

PMID:
8068159
17.

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E.

Clin Genet. 2010 Sep;78(3):236-46. doi: 10.1111/j.1399-0004.2010.01379.x. Epub 2010 Feb 11.

PMID:
20175788
18.

Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery.

Broekman ML, Baek RC, Comer LA, Fernandez JL, Seyfried TN, Sena-Esteves M.

Mol Ther. 2007 Jan;15(1):30-7.

PMID:
17164772
19.

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

Santamaria R, Blanco M, Chabás A, Grinberg D, Vilageliu L.

Clin Genet. 2007 Mar;71(3):273-9.

PMID:
17309651
20.

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.

Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K, Okada S, Uyama E, Namba R, Kondo K, et al.

Ann Neurol. 1992 Mar;31(3):328-32.

PMID:
1353343
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