Scaglia F - Search Results

1

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.

Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia F. Shayota BJ, et al. Among authors: scaglia f. Am J Med Genet A. 2019 May;179(5):803-807. doi: 10.1002/ajmg.a.61074. Epub 2019 Mar 7. Am J Med Genet A. 2019. PMID: 30848071 Free PMC article.

2

Deletion (9) (p13.1 p21.1).

Scaglia F, Bodamer OA, Berend SA, Adam LR, Shaffer LG. Scaglia F, et al. Am J Med Genet. 2000 Mar 13;91(2):113-5. Am J Med Genet. 2000. PMID: 10748408

3

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).

Bodamer OA, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F. Bodamer OA, et al. Among authors: scaglia f. Am J Med Genet. 2002 May 15;109(4):328-31. doi: 10.1002/ajmg.10385. Am J Med Genet. 2002. PMID: 11992489

4

Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.

Scaglia F, Lee B. Scaglia F, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):113-20. doi: 10.1002/ajmg.c.30091. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602094 Free PMC article. Review.

5

The Xp contiguous deletion syndrome and autism.

Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F. Shinawi M, et al. Among authors: scaglia f. Am J Med Genet A. 2009 Jun;149A(6):1138-48. doi: 10.1002/ajmg.a.32833. Am J Med Genet A. 2009. PMID: 19441126

6

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.

Fruhman G, Landsverk ML, Lotze TE, Hunter JV, Wangler MF, Adesina AM, Wong LJ, Scaglia F. Fruhman G, et al. Among authors: scaglia f. Mol Genet Metab. 2011 Jun;103(2):153-60. doi: 10.1016/j.ymgme.2011.02.014. Epub 2011 Feb 26. Mol Genet Metab. 2011. PMID: 21414825

7

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria.

Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU. Bekheirnia MR, et al. Among authors: scaglia f. Gene. 2012 May 10;499(1):209-12. doi: 10.1016/j.gene.2012.02.034. Epub 2012 Mar 3. Gene. 2012. PMID: 22405928

8

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

Sarkar A, Emrick LT, Smith EM, Austin EG, Yang Y, Hunter JV, Scaglia F, Lalani SR. Sarkar A, et al. Among authors: scaglia f. Am J Med Genet A. 2015 Apr;167A(4):914-8. doi: 10.1002/ajmg.a.36948. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25735261 No abstract available.

9

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Ziats MN, et al. Among authors: scaglia f. Am J Med Genet A. 2015 Sep;167A(9):2162-7. doi: 10.1002/ajmg.a.37144. Epub 2015 May 5. Am J Med Genet A. 2015. PMID: 25943046

10

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.

Pena JA, Lotze T, Yang Y, Umana L, Walkiewicz M, Hunter JV, Scaglia F. Pena JA, et al. Among authors: scaglia f. J Child Neurol. 2016 Feb;31(2):215-9. doi: 10.1177/0883073815587946. Epub 2015 Jun 9. J Child Neurol. 2016. PMID: 26060307

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

207 results

Search Page

Filters