Stefanie Stahl
Overview
Explore the profile of Stefanie Stahl including associated specialties, affiliations and a list of published articles.
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Articles
3
Citations
106
Followers
0
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Recent Articles
1.
Goldin E, Stahl S, Cooney A, Kaneski C, Gupta S, Brady R, et al.
Hum Mutat
. 2004 Nov;
24(6):460-5.
PMID: 15523648
A patient with mucolipidosis-IV heterozygous for two mutations in MCOLN1 expressed only her father's cDNA mutation c.1207C>T predicting an R403C change in mucolipin. She inherited a 93bp segment from mitochondrial...
2.
Raychowdhury M, Gonzalez-Perrett S, Montalbetti N, Timpanaro G, Chasan B, Goldmann W, et al.
Hum Mol Genet
. 2004 Jan;
13(6):617-27.
PMID: 14749347
Mucolipidosis type IV (MLIV) is an autosomal recessive neurogenetic disorder characterized by developmental abnormalities of the brain and impaired neurological, ophthalmologic and gastric function. Large vacuoles accumulate in various types...
3.
Falardeau J, Kennedy J, Acierno Jr J, Sun M, Stahl S, Goldin E, et al.
BMC Genomics
. 2002 Mar;
3:3.
PMID: 11897010
Background: Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. Recently the MLIV gene, MCOLN1, has been identified as a new...