Sarafoglou K - Search Results

1

PMM2-CDG caused by uniparental disomy: Case report and literature review.

Vaes L, Tiller GE, Pérez B, Boyer SW, Berry SA, Sarafoglou K, Morava E. Vaes L, et al. Among authors: sarafoglou k. JIMD Rep. 2020 Apr 28;54(1):16-21. doi: 10.1002/jmd2.12122. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685345 Free PMC article.

2

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

Sarafoglou K, Bentler K, Gaviglio A, Redlinger-Grosse K, Anderson C, McCann M, Bloom B, Babovic-Vuksanovic D, Gavrilov D, Berry SA. Sarafoglou K, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S169-73. doi: 10.1007/s10545-009-1135-7. Epub 2009 Sep 7. J Inherit Metab Dis. 2009. PMID: 19757147

3

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation.

Sarafoglou K, Tridgell AH, Bentler K, Redlinger-Grosse K, Berry SA, Schimmenti LA. Sarafoglou K, et al. Clin Genet. 2010 Aug;78(2):191-4. doi: 10.1111/j.1399-0004.2009.01368.x. Epub 2010 Jan 4. Clin Genet. 2010. PMID: 20095986

4

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Čechová A, et al. Among authors: sarafoglou k. Mol Genet Metab. 2021 Aug;133(4):397-399. doi: 10.1016/j.ymgme.2021.06.003. Epub 2021 Jun 11. Mol Genet Metab. 2021. PMID: 34140212 Free PMC article.

5

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.

Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A. Garapati K, et al. Among authors: sarafoglou k. JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509. JCI Insight. 2024. PMID: 38587076 Free PMC article.

6

rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency).

Miller BS, Duffy MM, Addo OY, Sarafoglou K. Miller BS, et al. Among authors: sarafoglou k. J Investig Med High Impact Case Rep. 2013 Sep 5;1(3):2324709613503316. doi: 10.1177/2324709613503316. eCollection 2013 Jul-Sep. J Investig Med High Impact Case Rep. 2013. PMID: 26425584 Free PMC article.

7

A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.

Liu Y, Bentler K, Coffee B, Chhay JS, Sarafoglou K, Fridovich-Keil JL. Liu Y, et al. Among authors: sarafoglou k. JIMD Rep. 2013;7:89-98. doi: 10.1007/8904_2012_153. Epub 2012 Jul 1. JIMD Rep. 2013. PMID: 23430501 Free PMC article.

8

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.

Westenfield K, Sarafoglou K, Speltz LC, Pierpont EI, Steyermark J, Nascene D, Bower M, Pierpont ME. Westenfield K, et al. Among authors: sarafoglou k. BMC Med Genet. 2018 Jun 15;19(1):100. doi: 10.1186/s12881-018-0617-6. BMC Med Genet. 2018. PMID: 29907092 Free PMC article.

9

Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor.

Kia F, Sarafoglou K, Mooganayakanakote Siddappa A, Roberts KD. Kia F, et al. Among authors: sarafoglou k. BMJ Case Rep. 2019 Jul 12;12(7):e227986. doi: 10.1136/bcr-2018-227986. BMJ Case Rep. 2019. PMID: 31302614 Free PMC article.

10

Expanded newborn screening for detection of vitamin B12 deficiency.

Sarafoglou K, Rodgers J, Hietala A, Matern D, Bentler K. Sarafoglou K, et al. JAMA. 2011 Mar 23;305(12):1198-200. doi: 10.1001/jama.2011.310. JAMA. 2011. PMID: 21427371 No abstract available.

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