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1.

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.

Kallis, Penelope; Bisbee, Elizabeth; Garganta, Cheryl; Schoch, Jennifer J.

Pediatr Dermatol; 39(1): 151-152, 2022 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-34787337

2.

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.

Rossignol, Francis; Duarte Moreno, Marvid S; Benoist, Jean-François; Boehm, Manfred; Bourrat, Emmanuelle; Cano, Aline; Chabrol, Brigitte; Cosson, Claudine; Díaz, José Luís Dapena; D'Harlingue, Arthur; Dimmock, David; Freeman, Alexandra F; García, María Tallón; Garganta, Cheryl; Goerge, Tobias; Halbach, Sara S; de Laffolie, Jan; Lam, Christina T; Martin, Ludovic; Martins, Esmeralda; Meinhardt, Andrea; Melki, Isabelle; Ombrello, Amanda K; Pérez, Noémie; Quelhas, Dulce; Scott, Anna; Slavotinek, Anne M; Soares, Ana Rita; Stein, Sarah L; Süßmuth, Kira; Thies, Jenny; Ferreira, Carlos R; Schiff, Manuel.

Genet Med; 23(9): 1604-1615, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-34040193

3.

Expanding the spectrum of CEP55-associated disease to viable phenotypes.

Barrie, Elizabeth S; Overwater, Eline; van Haelst, Mieke M; Motazacker, M Mahdi; Truxal, Kristen V; Crist, Erin; Mostafavi, Roya; Pivnick, Eniko K; Choudhri, Asim F; Narumanchi, TaraChandra; Castelluccio, Valerie; Walsh, Laurence E; Garganta, Cheryl; Gastier-Foster, Julie M.

Am J Med Genet A; 182(5): 1201-1208, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32100459

4.

Association between body weight and composition and plasma 25-hydroxyvitamin D level in the Diabetes Prevention Program.

Ceglia, Lisa; Nelson, Jason; Ware, James; Alysandratos, Konstantinos-Dionysios; Bray, George A; Garganta, Cheryl; Nathan, David M; Hu, Frank B; Dawson-Hughes, Bess; Pittas, Anastassios G.

Eur J Nutr; 56(1): 161-170, 2017 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-26525562

5.

Vitamin D deficiency is associated with progression of knee osteoarthritis.

Zhang, Fang Fang; Driban, Jeffrey B; Lo, Grace H; Price, Lori Lyn; Booth, Sarah; Eaton, Charles B; Lu, Bing; Nevitt, Michael; Jackson, Becky; Garganta, Cheryl; Hochberg, Marc C; Kwoh, Kent; McAlindon, Timothy E.

J Nutr; 144(12): 2002-8, 2014 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-25411034

6.

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

Arnold, Georgianne L; Van Hove, Johan; Freedenberg, Debra; Strauss, Arnold; Longo, Nicola; Burton, Barbara; Garganta, Cheryl; Ficicioglu, Can; Cederbaum, Stephen; Harding, Cary; Boles, Richard G; Matern, Dietrich; Chakraborty, Pranesh; Feigenbaum, Annette.

Mol Genet Metab; 96(3): 85-90, 2009 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-19157942

7.

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Arnold, Georgianne L; Koeberl, Dwight D; Matern, Dietrich; Barshop, Bruce; Braverman, Nancy; Burton, Barbara; Cederbaum, Stephen; Fiegenbaum, Annette; Garganta, Cheryl; Gibson, James; Goodman, Stephen I; Harding, Cary; Kahler, Stephen; Kronn, David; Longo, Nicola.

Mol Genet Metab; 93(4): 363-70, 2008 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-18155630

8.

Blockade of GABA synthesis only affects neural excitability under activated conditions in rat hippocampal slices.

Dericioglu, Nese; Garganta, Cheryl L; Petroff, Ognen A; Mendelsohn, Dara; Williamson, Anne.

Neurochem Int; 53(1-2): 22-32, 2008 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-18534717

9.

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

Richardson, Annely; Berry, Gerard T; Garganta, Cheryl; Abbott, Mary-Alice.

JIMD Rep; 32: 25-32, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-27295195

10.

Validation of high-throughput methods for measuring blood urea nitrogen and urinary albumin concentrations in mice.

Grindle, Susan; Garganta, Cheryl; Sheehan, Susan; Gile, Joe; Lapierre, Andree; Whitmore, Harry; Paigen, Beverly; DiPetrillo, Keith.

Comp Med; 56(6): 482-6, 2006 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-17219778

11.

Newborn Screening-What Parents Need to Know About Their Infant's First Tests.

Garganta, Cheryl L; Rasmussen, Sonja A; Thompson, Lindsay A.

JAMA Pediatr; 175(9): 984, 2021 09 01.

Artículo en Inglés | MEDLINE | ID: mdl-34309644

12.

Recurrent high anion gap metabolic acidosis secondary to 5-oxoproline (pyroglutamic acid).

Tailor, Prayus; Raman, Tuhina; Garganta, Cheryl L; Njalsson, Runa; Carlsson, Katarina; Ristoff, Ellinor; Carey, Hugh B.

Am J Kidney Dis; 46(1): e4-10, 2005 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-15983950

13.

Metabolic evaluation of the sick neonate.

Garganta, Cheryl L; Smith, Wendy E.

Semin Perinatol; 29(3): 164-72, 2005 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-16114579

14.

Assays for measuring extracellular GABA levels and cell migration rate in acute slices.

Bolteus, Anna J; Garganta, Cheryl; Bordey, Angélique.

Brain Res Brain Res Protoc; 14(2): 126-34, 2005 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-15721818

15.

New KIT mutations in patients with piebaldism.

Murakami, Tomoko; Fukai, Kazuyoshi; Oiso, Naoki; Hosomi, Naoko; Kato, Atsushi; Garganta, Cheryl; Barnicoat, Angela; Poppelaars, Francis; Aquaron, Robert; Paller, Amy S; Ishii, Masamitsu.

J Dermatol Sci; 35(1): 29-33, 2004 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-15194144

16.

Plasma 25-hydroxyvitamin D and progression to diabetes in patients at risk for diabetes: an ancillary analysis in the Diabetes Prevention Program.

Pittas, Anastassios G; Nelson, Jason; Mitri, Joanna; Hillmann, William; Garganta, Cheryl; Nathan, David M; Hu, Frank B; Dawson-Hughes, Bess.

Diabetes Care; 35(3): 565-73, 2012 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-22323410

17.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

Poduri, Annapurna; Chitsazzadeh, Vida; D'Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A; Barry, Brenda J; Partlow, Jennifer; Barkovich, A James; Walsh, Christopher A; Chang, Bernard S.

Brain Dev; 32(7): 550-5, 2010 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-19751967

18.

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.

Harvey Mudd, S; Braverman, Nancy; Pomper, Martin; Tezcan, Kamer; Kronick, Jonathan; Jayakar, Parul; Garganta, Cheryl; Ampola, Mary G; Levy, Harvey L; McCandless, Shawn E; Wiltse, Hobart; Stabler, Sally P; Allen, Robert H; Wagner, Conrad; Borschel, Marlene W.

Mol Genet Metab; 79(1): 6-16, 2003 May.

Artículo en Inglés | MEDLINE | ID: mdl-12765841

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