256 related articles for article (PubMed ID: 30670878)
21. Creatine metabolism in urea cycle defects.
Boenzi S; Pastore A; Martinelli D; Goffredo BM; Boiani A; Rizzo C; Dionisi-Vici C
J Inherit Metab Dis; 2012 Jul; 35(4):647-53. PubMed ID: 22644604
[TBL] [Abstract][Full Text] [Related]
22. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.
Pappan KL; Kennedy AD; Magoulas PL; Hanchard NA; Sun Q; Elsea SH
Pediatr Neurol; 2017 Oct; 75():66-72. PubMed ID: 28823629
[TBL] [Abstract][Full Text] [Related]
23. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.
Scaglia F; Carter S; O'Brien WE; Lee B
Mol Genet Metab; 2004 Apr; 81 Suppl 1():S79-85. PubMed ID: 15050979
[TBL] [Abstract][Full Text] [Related]
24. Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.
Mokhtarani M; Diaz GA; Rhead W; Berry SA; Lichter-Konecki U; Feigenbaum A; Schulze A; Longo N; Bartley J; Berquist W; Gallagher R; Smith W; McCandless SE; Harding C; Rockey DC; Vierling JM; Mantry P; Ghabril M; Brown RS; Dickinson K; Moors T; Norris C; Coakley D; Milikien DA; Nagamani SC; Lemons C; Lee B; Scharschmidt BF
Mol Genet Metab; 2013 Dec; 110(4):446-53. PubMed ID: 24144944
[TBL] [Abstract][Full Text] [Related]
25. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
Erez A; Nagamani SC; Lee B
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):45-53. PubMed ID: 21312326
[TBL] [Abstract][Full Text] [Related]
26. Untargeted Metabolomics Analysis of the Serum Metabolic Signature of Childhood Obesity.
Szczerbinski L; Wojciechowska G; Olichwier A; Taylor MA; Puchta U; Konopka P; Paszko A; Citko A; Goscik J; Fiehn O; Fan S; Wasilewska A; Taranta-Janusz K; Kretowski A
Nutrients; 2022 Jan; 14(1):. PubMed ID: 35011090
[TBL] [Abstract][Full Text] [Related]
27. Dietary management of urea cycle disorders: European practice.
Adam S; Almeida MF; Assoun M; Baruteau J; Bernabei SM; Bigot S; Champion H; Daly A; Dassy M; Dawson S; Dixon M; Dokoupil K; Dubois S; Dunlop C; Evans S; Eyskens F; Faria A; Favre E; Ferguson C; Goncalves C; Gribben J; Heddrich-Ellerbrok M; Jankowski C; Janssen-Regelink R; Jouault C; Laguerre C; Le Verge S; Link R; Lowry S; Luyten K; Macdonald A; Maritz C; McDowell S; Meyer U; Micciche A; Robert M; Robertson LV; Rocha JC; Rohde C; Saruggia I; Sjoqvist E; Stafford J; Terry A; Thom R; Vande Kerckhove K; van Rijn M; van Teeffelen-Heithoff A; Wegberg Av; van Wyk K; Vasconcelos C; Vestergaard H; Webster D; White FJ; Wildgoose J; Zweers H
Mol Genet Metab; 2013 Dec; 110(4):439-45. PubMed ID: 24113687
[TBL] [Abstract][Full Text] [Related]
28. Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis.
Tebani A; Abily-Donval L; Schmitz-Afonso I; Héron B; Piraud M; Ausseil J; Zerimech F; Gonzalez B; Marret S; Afonso C; Bekri S
J Transl Med; 2018 Sep; 16(1):248. PubMed ID: 30180851
[TBL] [Abstract][Full Text] [Related]
29. Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Kido J; Matsumoto S; Häberle J; Nakajima Y; Wada Y; Mochizuki N; Murayama K; Lee T; Mochizuki H; Watanabe Y; Horikawa R; Kasahara M; Nakamura K
J Inherit Metab Dis; 2021 Jul; 44(4):826-837. PubMed ID: 33840128
[TBL] [Abstract][Full Text] [Related]
30. Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.
Waisbren SE; Stefanatos AK; Kok TMY; Ozturk-Hismi B
J Inherit Metab Dis; 2019 Nov; 42(6):1176-1191. PubMed ID: 31268178
[TBL] [Abstract][Full Text] [Related]
31. The incidence of urea cycle disorders.
Summar ML; Koelker S; Freedenberg D; Le Mons C; Haberle J; Lee HS; Kirmse B; ;
Mol Genet Metab; 2013; 110(1-2):179-80. PubMed ID: 23972786
[TBL] [Abstract][Full Text] [Related]
32. The role of the Human Metabolome Database in inborn errors of metabolism.
Mandal R; Chamot D; Wishart DS
J Inherit Metab Dis; 2018 May; 41(3):329-336. PubMed ID: 29663269
[TBL] [Abstract][Full Text] [Related]
33. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism.
Kennedy AD; Miller MJ; Beebe K; Wulff JE; Evans AM; Miller LA; Sutton VR; Sun Q; Elsea SH
Genet Test Mol Biomarkers; 2016 Sep; 20(9):485-95. PubMed ID: 27448163
[TBL] [Abstract][Full Text] [Related]
34. Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism.
Mian A; Lee B
Trends Mol Med; 2002 Dec; 8(12):583-9. PubMed ID: 12470992
[TBL] [Abstract][Full Text] [Related]
35. Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
Molema F; Gleich F; Burgard P; van der Ploeg AT; Summar ML; Chapman KA; Barić I; Lund AM; Kölker S; Williams M;
J Inherit Metab Dis; 2019 Nov; 42(6):1162-1175. PubMed ID: 30734935
[TBL] [Abstract][Full Text] [Related]
36. Untargeted metabolomic profiling identifies disease-specific signatures in food allergy and asthma.
Crestani E; Harb H; Charbonnier LM; Leirer J; Motsinger-Reif A; Rachid R; Phipatanakul W; Kaddurah-Daouk R; Chatila TA
J Allergy Clin Immunol; 2020 Mar; 145(3):897-906. PubMed ID: 31669435
[TBL] [Abstract][Full Text] [Related]
37. Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J; Matsumoto S; Sugawara K; Sawada T; Nakamura K
Am J Med Genet A; 2021 Jul; 185(7):2026-2036. PubMed ID: 33851512
[TBL] [Abstract][Full Text] [Related]
38. Oxidative stress in urea cycle disorders: Findings from clinical and basic research.
Parmeggiani B; Vargas CR
Clin Chim Acta; 2018 Feb; 477():121-126. PubMed ID: 29203429
[TBL] [Abstract][Full Text] [Related]
39. Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Thistlethwaite LR; Li X; Burrage LC; Riehle K; Hacia JG; Braverman N; Wangler MF; Miller MJ; Elsea SH; Milosavljevic A
Sci Rep; 2022 Apr; 12(1):6556. PubMed ID: 35449147
[TBL] [Abstract][Full Text] [Related]
40. Neuromonitoring in Rare Disorders of Metabolism.
Castillo-Pinto C; Sen K; Gropman A
Yale J Biol Med; 2021 Dec; 94(4):645-655. PubMed ID: 34970103
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
