Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 88

1.

A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus.

Broomfield A, Gunny R, Ali I, Vellodi A, Prabhakar P.

JIMD Rep. 2013;11:93-7. doi: 10.1007/8904_2013_227.

2.

Biochemical and morphological expression of early prenatal caprine beta-mannosidosis.

Lovell KL, Matsuura F, Patterson J, Baeverfjord G, Ames NK, Jones MZ.

Prenat Diagn. 1997 Jun;17(6):551-7.

PMID:
9203214
3.

Neuropathology of bovine beta-mannosidosis.

Patterson JS, Jones MZ, Lovell KL, Abbitt B.

J Neuropathol Exp Neurol. 1991 Sep;50(5):538-46.

PMID:
1895144
4.

Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis.

Leipprandt JR, Kraemer SA, Haithcock BE, Chen H, Dyme JL, Cavanagh KT, Friderici KH, Jones MZ.

Genomics. 1996 Oct 1;37(1):51-6.

PMID:
8921369
5.

Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes.

Leipprandt JR, Chen H, Horvath JE, Qiao XT, Jones MZ, Friderici KH.

Mamm Genome. 1999 Dec;10(12):1137-41.

PMID:
10594236
6.

Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.

Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH.

Hum Mol Genet. 1998 Jan;7(1):75-83.

7.

Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.

Bedilu R, Nummy KA, Cooper A, Wevers R, Smeitink J, Kleijer WJ, Friderici KH.

Mol Genet Metab. 2002 Dec;77(4):282-90.

PMID:
12468273
8.

Caprine beta-mannosidosis. Abnormal thyroid structure and function in a lysosomal storage disease.

Boyer PJ, Jones MZ, Nachreiner RF, Refsal KR, Common RS, Kelley J, Lovell KL.

Lab Invest. 1990 Jul;63(1):100-6.

PMID:
2374396
9.
10.

Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.

Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N, Konohana I, Kanzaki T.

Br J Dermatol. 2003 Jul;149(1):23-9.

PMID:
12890191
11.

Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.

Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A.

J Am Acad Dermatol. 2007 Sep;57(3):407-12. Review.

PMID:
17420068
12.

Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis.

Boyer PJ, Jones MZ, Rathke EJ, Truscott NK, Lovell KL.

J Neurochem. 1990 Aug;55(2):660-4.

PMID:
2370553
13.

A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

Sabourdy F, Labauge P, Stensland HM, Nieto M, Garcés VL, Renard D, Castelnovo G, de Champfleur N, Levade T.

BMC Med Genet. 2009 Sep 3;10:84. doi: 10.1186/1471-2350-10-84.

14.

Beta-mannosidosis mice: a model for the human lysosomal storage disease.

Zhu M, Lovell KL, Patterson JS, Saunders TL, Hughes ED, Friderici KH.

Hum Mol Genet. 2006 Feb 1;15(3):493-500.

15.

Beta-mannosidosis with angiokeratoma corporis diffusum.

Suzuki N, Konohana I, Fukushige T, Kanzaki T.

J Dermatol. 2004 Nov;31(11):931-5.

PMID:
15729869
16.

Caprine beta-mannosidosis: phenotypic features.

Kumar K, Jones MZ, Cunningham JG, Kelley JA, Lovell KL.

Vet Rec. 1986 Mar 22;118(12):325-7.

PMID:
2939617
17.

Beta-mannosidosis: a new cause of spinocerebellar ataxia.

Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T.

Clin Neurol Neurosurg. 2009 Jan;111(1):109-10. doi: 10.1016/j.clineuro.2008.09.007.

PMID:
18980795
19.

Cerebral palsy, developmental delay, and epilepsy after neonatal seizures.

Garfinkle J, Shevell MI.

Pediatr Neurol. 2011 Feb;44(2):88-96. doi: 10.1016/j.pediatrneurol.2010.09.001.

PMID:
21215907
20.

Early onset alpha-mannosidosis with slow progression in three Hispanic males.

Lyons MJ, Wood T, Espinoza L, Stensland HM, Holden KR.

Dev Med Child Neurol. 2007 Nov;49(11):854-7. Erratum in: Dev Med Child Neurol. 2008 Jan;50(1):32.

Items per page

Supplemental Content

Support Center