Scaglia F - Search Results

1

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Lalani SR, et al. Among authors: scaglia f. Arch Neurol. 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. Arch Neurol. 2005. PMID: 15710863

2

Functional characterization of the carnitine transporter defective in primary carnitine deficiency.

Scaglia F, Wang Y, Longo N. Scaglia F, et al. Arch Biochem Biophys. 1999 Apr 1;364(1):99-106. doi: 10.1006/abbi.1999.1118. Arch Biochem Biophys. 1999. PMID: 10087170

3

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

4

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.

Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GD. Scaglia F, et al. J Child Neurol. 2001 Feb;16(2):136-8. doi: 10.1177/088307380101600214. J Child Neurol. 2001. PMID: 11292221

5

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

Inoue K, Tanaka H, Scaglia F, Araki A, Shaffer LG, Lupski JR. Inoue K, et al. Among authors: scaglia f. Ann Neurol. 2001 Dec;50(6):747-54. doi: 10.1002/ana.10036. Ann Neurol. 2001. PMID: 11761472

6

An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.

Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B. Scaglia F, et al. Pediatrics. 2002 Jan;109(1):150-2. doi: 10.1542/peds.109.1.150. Pediatrics. 2002. PMID: 11773558

7

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

8

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.

Scaglia F, Scheuerle AE, Towbin JA, Armstrong DL, Sweetman L, Wong LJ. Scaglia F, et al. BMC Pediatr. 2002 Dec 30;2:12. doi: 10.1186/1471-2431-2-12. Epub 2002 Dec 30. BMC Pediatr. 2002. PMID: 12507404 Free PMC article.

9

Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers.

Scaglia F, Marini J, Rosenberger J, Henry J, Garlick P, Lee B, Reeds P. Scaglia F, et al. Am J Clin Nutr. 2003 Oct;78(4):749-55. doi: 10.1093/ajcn/78.4.749. Am J Clin Nutr. 2003. PMID: 14522733

10

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ. Scaglia F, et al. Am J Med Genet A. 2003 Dec 1;123A(2):172-8. doi: 10.1002/ajmg.a.20315. Am J Med Genet A. 2003. PMID: 14598342

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