Boyadjiev S - Search Results

1

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.

Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME. Pratt VM, et al. Among authors: boyadjiev s. Am J Med Genet. 1995 Feb 13;55(4):402-4. doi: 10.1002/ajmg.1320550403. Am J Med Genet. 1995. PMID: 7539212

2

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.

Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette CJ, Maegawa G, Boyadjiev SA, Gonzalez D, Nicholls K, Tuffaha A, Atta MG, Rup B, Charney MR, Paz A, Szlaifer M, Alon S, Brill-Almon E, Chertkoff R, Hughes D. Schiffmann R, et al. Among authors: boyadjiev sa. J Inherit Metab Dis. 2019 May;42(3):534-544. doi: 10.1002/jimd.12080. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30834538 Clinical Trial.

3

Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia.

Praphanphoj V, Boyadjiev SA, Waber LJ, Brusilow SW, Geraghty MT. Praphanphoj V, et al. Among authors: boyadjiev sa. J Inherit Metab Dis. 2000 Mar;23(2):129-36. doi: 10.1023/a:1005661631281. J Inherit Metab Dis. 2000. PMID: 10801054

4

Corrigendum to "BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche" [Bone 112 (July 2018) 58-70].

Barba M, Di Pietro L, Massimi L, Geloso MC, Frassanito P, Caldarelli M, Michetti F, Della Longa S, Romitti PA, Di Rocco C, Arcovito A, Parolini O, Tamburrini G, Bernardini C, Boyadjiev SA, Lattanzi W. Barba M, et al. Among authors: boyadjiev sa. Bone. 2019 Apr;121:293. doi: 10.1016/j.bone.2019.02.004. Epub 2019 Feb 15. Bone. 2019. PMID: 30777729 Free PMC article. No abstract available.

5

The genetic overlap between osteoporosis and craniosynostosis.

Kague E, Medina-Gomez C, Boyadjiev SA, Rivadeneira F. Kague E, et al. Among authors: boyadjiev sa. Front Endocrinol (Lausanne). 2022 Sep 26;13:1020821. doi: 10.3389/fendo.2022.1020821. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36225206 Free PMC article. Review.

6

The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia.

Al-Hassnan ZN, Boyadjiev SA, Praphanphoj V, Hamosh A, Braverman NE, Thomas GH, Geraghty MT. Al-Hassnan ZN, et al. Among authors: boyadjiev sa. J Inherit Metab Dis. 2003;26(1):89-91. doi: 10.1023/a:1024048118294. J Inherit Metab Dis. 2003. PMID: 12872849

7

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.

Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA. Cohn RD, et al. Among authors: boyadjiev sa. Pediatrics. 2006 Aug;118(2):e514-21. doi: 10.1542/peds.2005-1307. Epub 2006 Jun 30. Pediatrics. 2006. PMID: 16816004

8

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.

Valayannopoulos V, Malinova V, Honzík T, Balwani M, Breen C, Deegan PB, Enns GM, Jones SA, Kane JP, Stock EO, Tripuraneni R, Eckert S, Schneider E, Hamilton G, Middleton MS, Sirlin C, Kessler B, Bourdon C, Boyadjiev SA, Sharma R, Twelves C, Whitley CB, Quinn AG. Valayannopoulos V, et al. Among authors: boyadjiev sa. J Hepatol. 2014 Nov;61(5):1135-42. doi: 10.1016/j.jhep.2014.06.022. Epub 2014 Jun 30. J Hepatol. 2014. PMID: 24993530 Free PMC article. Clinical Trial.

9

Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.

Pratt VM, Boyadjiev S, Green K, Hodes ME, Dlouhy SR. Pratt VM, et al. Among authors: boyadjiev s. Am J Med Genet. 1995 Jul 31;58(1):70-3. doi: 10.1002/ajmg.1320580114. Am J Med Genet. 1995. PMID: 7573159

10

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.

Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA. Sahota A, et al. Among authors: boyadjiev sa. Hum Mol Genet. 1994 May;3(5):817-8. doi: 10.1093/hmg/3.5.817. Hum Mol Genet. 1994. PMID: 7915931 No abstract available.

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