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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1.
J Inherit Metab Dis. 2021.
PMID: 33200442
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E.
Altassan R, et al. Among authors: lee j.
J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15.
J Inherit Metab Dis. 2021.
PMID: 32681750
Free PMC article.
Review.
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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.
Altassan R, et al. Among authors: lee j.
J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024.
J Inherit Metab Dis. 2019.
PMID: 30740725
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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.
Ng BG, et al. Among authors: lee h, lee j.
Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.
Hum Mutat. 2019.
PMID: 30817854
Free PMC article.
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Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Sue CM, Balasubramaniam S, Bratkovic D, Bonifant C, Christodoulou J, Coman D, Crawley K, Edema-Hildebrand F, Ellaway C, Ghaoui R, Kava M, Kearns LS, Lee J, Liang C, Mackey DA, Murray S, Needham M, Rius R, Russell J, Smith NJC, Thyagarajan D, Wools C.
Sue CM, et al. Among authors: lee j.
Intern Med J. 2022 Jan;52(1):110-120. doi: 10.1111/imj.15505. Epub 2021 Nov 19.
Intern Med J. 2022.
PMID: 34505344
Free PMC article.
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Ethylmalonic encephalopathy masquerading as meningococcemia.
Horton A, Hong KM, Pandithan D, Allen M, Killick C, Goergen S, Springer A, Phelan D, Marty M, Halligan R, Lee J, Pitt J, Chong B, Christodoulou J, Lunke S, Stark Z, Fahey M.
Horton A, et al. Among authors: lee j.
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006193. doi: 10.1101/mcs.a006193. Print 2022 Feb.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 35165146
Free PMC article.
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A critically ill child with dark urine.
Zayegh A, Lee J, Peters H, Efron D.
Zayegh A, et al. Among authors: lee j.
Arch Dis Child Educ Pract Ed. 2019 Feb;104(1):15. doi: 10.1136/archdischild-2017-314195. Epub 2018 Feb 7.
Arch Dis Child Educ Pract Ed. 2019.
PMID: 29437759
No abstract available.
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Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.
Kiss S, Lee JY, Pitt J, MacGregor D, Wallace J, Marty M, Brown NJ.
Kiss S, et al. Among authors: lee jy.
JIMD Rep. 2020 Aug 20;56(1):34-39. doi: 10.1002/jmd2.12161. eCollection 2020 Nov.
JIMD Rep. 2020.
PMID: 33204594
Free PMC article.
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Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.
Clarkston K, Lee J, Donoghue S, Peters H, Eiroa H, Shah AA, Loomes K, Wen J, Oliver M, Hardikar W, Prada CE, Asai A.
Clarkston K, et al. Among authors: lee j.
Am J Med Genet A. 2021 Mar;185(3):909-915. doi: 10.1002/ajmg.a.62031. Epub 2020 Dec 24.
Am J Med Genet A. 2021.
PMID: 33369132
Free PMC article.
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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ.
Van Bergen NJ, et al. Among authors: lee jy.
Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986.
Int J Mol Sci. 2022.
PMID: 35055180
Free PMC article.
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