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Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening.
Peretz RH, Ah Mew N, Vernon HJ, Ganetzky RD. Peretz RH, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):37-42. doi: 10.1016/j.ymgme.2021.06.007. Epub 2021 Jun 24. Mol Genet Metab. 2021. PMID: 34176718 Free PMC article.
Additionally, some state laboratory newborn screening programs report low citrulline levels, which may be observed in proximal urea cycle disorders. We report six patients who were found on newborn screening to have low citrulline and/or elevated C5-OH …
Additionally, some state laboratory newborn screening programs report low citrulline levels, which may be observed in proximal …
Treatment and management for children with urea cycle disorder in chronic stage.
Huang X. Huang X. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Oct 3;52(6):744-750. doi: 10.3724/zdxbyxb-2023-0378. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 37807629 Free PMC article. Chinese, English.
Gene therapy, stem cell therapy, enzyme therapy and other novel technologies may offer options for treatment in UCD patients. ...Gene therapy, stem cell therapy, enzyme therapy and other novel technologies may offer options for treatment …
Gene therapy, stem cell therapy, enzyme therapy and other novel technologies may offer options for treatment in UCD pat …
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; Additional individual contributors from E-IMD. Molema F, et al. J Inherit Metab Dis. 2019 Nov;42(6):1162-1175. doi: 10.1002/jimd.12066. Epub 2019 Feb 27. J Inherit Metab Dis. 2019. PMID: 30734935 Free article.
Plasma levels were particularly low in patients who received amino acid mixtures (AAMs-OAD) and L-isoleucine:L-leucine:L-valine (BCAA) ratio was 1.0:3.0:3.2. ...In conclusion, while MMA and PA patients who received AAMs-OAD had very low BCAA levels and distur
Plasma levels were particularly low in patients who received amino acid mixtures (AAMs-OAD) and L-isoleucine:L-leucine:L-valin
Plasma metabolomics in tuberculosis patients with and without concurrent type 2 diabetes at diagnosis and during antibiotic treatment.
Vrieling F, Alisjahbana B, Sahiratmadja E, van Crevel R, Harms AC, Hankemeier T, Ottenhoff THM, Joosten SA. Vrieling F, et al. Sci Rep. 2019 Dec 10;9(1):18669. doi: 10.1038/s41598-019-54983-5. Sci Rep. 2019. PMID: 31822686 Free PMC article.
Targeted tandem liquid chromatography-mass spectrometry (LC-MS/MS) was used to compare amine and acylcarnitine levels in plasma samples of patients with TB or TB-DM from Indonesia at time of diagnosis and during antibiotic treatment. ...Amine levels were strongly altered i …
Targeted tandem liquid chromatography-mass spectrometry (LC-MS/MS) was used to compare amine and acylcarnitine levels in plasma sampl …
Relationship of asymmetric dimethylarginine to dialysis treatment and atherosclerotic disease.
Kielstein JT, Bode-Böger SM, Frölich JC, Haller H, Böger RH. Kielstein JT, et al. Kidney Int Suppl. 2001 Feb;78:S9-13. doi: 10.1046/j.1523-1755.2001.59780009.x. Kidney Int Suppl. 2001. PMID: 11168975 Free article. Review.
In addition, ADMA is degraded by the enzyme dimethylarginine dimethylaminohydrolase (DDAH), which hydrolyzes ADMA to L-citrulline and dimethylamine. Activity of DDAH is decreased by oxidized low density lipoprotein (LDL) or tumor necrosis factor-alpha (TNF-alpha) in …
In addition, ADMA is degraded by the enzyme dimethylarginine dimethylaminohydrolase (DDAH), which hydrolyzes ADMA to L-citrulline and …
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
Mercimek-Mahmutoglu S, Moeslinger D, Häberle J, Engel K, Herle M, Strobl MW, Scheibenreiter S, Muehl A, Stöckler-Ipsiroglu S. Mercimek-Mahmutoglu S, et al. Mol Genet Metab. 2010 May;100(1):24-8. doi: 10.1016/j.ymgme.2010.01.013. Epub 2010 Feb 4. Mol Genet Metab. 2010. PMID: 20236848
Four patients had an abnormal EEG without evidence of clinical seizures and three had abnormal liver function tests and/or evidence of hepatic steatosis. Plasma citrulline levels were elevated in four patients. Plasma ammonia levels were within normal range p …
Four patients had an abnormal EEG without evidence of clinical seizures and three had abnormal liver function tests and/or evidence of hepat …
Plasma concentrations of free amino acids during 3 weeks treatment of massively obese children with a very low calorie diet.
Widhalm K, Zwiauer K, Hayde M, Roth E. Widhalm K, et al. Eur J Pediatr. 1989 Oct;149(1):43-7. doi: 10.1007/BF02024333. Eur J Pediatr. 1989. PMID: 2606127
Glycine, proline, serine and threonine showed a progressive increase, while cystine, histidine and, above all, alanine decreased, the diminution of alanine being most rapid during the 1st week. No significant changes were observed in plasma concentrations of arginine, aspa …
Glycine, proline, serine and threonine showed a progressive increase, while cystine, histidine and, above all, alanine decreased, the diminu …