Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 983, doi. 10.1093/hmg/10.9.983
- By:
- Publication type:
- Article
Works matching DE "ASPARTYLGLYCOSAMINURIA"
Results: 10
1
2
Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria.
- Published in:
- 1991
- By:
- Publication type:
- journal article
3
Aspartylglycosaminuria: a review.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0544-6
- By:
- Publication type:
- Article
4
PLASMA ANGIOTENSINASE ACTIVITY ON ANGIOTENSIN II AND ANALOGUES.
- Published in:
- Australian Journal of Experimental Biology & Medical Science, 1967, v. 45, n. 1, p. 41, doi. 10.1038/icb.1967.2
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- Publication type:
- Article
5
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.
- Published in:
- British Journal of Dermatology, 2002, v. 147, n. 4, p. 760, doi. 10.1046/j.1365-2133.2002.04827.x
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- Publication type:
- Article
6
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.
- Published in:
- Gene Therapy, 1998, v. 5, n. 10, p. 1314, doi. 10.1038/sj.gt.3300740
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- Publication type:
- Article
7
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 447, doi. 10.1034/j.1399-0004.2000.580604.x
- By:
- Publication type:
- Article
8
Co-existence of lysosomal storage diseases in a consanguineous family.
- Published in:
- Child: Care, Health & Development, 2001, v. 27, n. 2, p. 173, doi. 10.1046/j.1365-2214.2001.00165.x
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- Publication type:
- Article
9
Progressive nature of aspartylglucosaminuria.
- Published in:
- 2002
- By:
- Publication type:
- journal article
10
CITATIONS AND CLINICIANS' NOTES: CLINICAL MANIFESTATIONS.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2004, v. 4, n. 2, p. 46
- Publication type:
- Article