440 related articles for article (PubMed ID: 30827756)
1. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Molema F; Gleich F; Burgard P; van der Ploeg AT; Summar ML; Chapman KA; Lund AM; Rizopoulos D; Kölker S; Williams M;
Mol Genet Metab; 2019 Apr; 126(4):397-405. PubMed ID: 30827756
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism.
Evans M; Truby H; Boneh A
J Pediatr; 2017 Sep; 188():163-172. PubMed ID: 28629683
[TBL] [Abstract][Full Text] [Related]
4. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
Kölker S; Garcia-Cazorla A; Valayannopoulos V; Lund AM; Burlina AB; Sykut-Cegielska J; Wijburg FA; Teles EL; Zeman J; Dionisi-Vici C; Barić I; Karall D; Augoustides-Savvopoulou P; Aksglaede L; Arnoux JB; Avram P; Baumgartner MR; Blasco-Alonso J; Chabrol B; Chakrapani A; Chapman K; I Saladelafont EC; Couce ML; de Meirleir L; Dobbelaere D; Dvorakova V; Furlan F; Gleich F; Gradowska W; Grünewald S; Jalan A; Häberle J; Haege G; Lachmann R; Laemmle A; Langereis E; de Lonlay P; Martinelli D; Matsumoto S; Mühlhausen C; de Baulny HO; Ortez C; Peña-Quintana L; Ramadža DP; Rodrigues E; Scholl-Bürgi S; Sokal E; Staufner C; Summar ML; Thompson N; Vara R; Pinera IV; Walter JH; Williams M; Burgard P
J Inherit Metab Dis; 2015 Nov; 38(6):1041-57. PubMed ID: 25875215
[TBL] [Abstract][Full Text] [Related]
5. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Kölker S; Valayannopoulos V; Burlina AB; Sykut-Cegielska J; Wijburg FA; Teles EL; Zeman J; Dionisi-Vici C; Barić I; Karall D; Arnoux JB; Avram P; Baumgartner MR; Blasco-Alonso J; Boy SP; Rasmussen MB; Burgard P; Chabrol B; Chakrapani A; Chapman K; Cortès I Saladelafont E; Couce ML; de Meirleir L; Dobbelaere D; Furlan F; Gleich F; González MJ; Gradowska W; Grünewald S; Honzik T; Hörster F; Ioannou H; Jalan A; Häberle J; Haege G; Langereis E; de Lonlay P; Martinelli D; Matsumoto S; Mühlhausen C; Murphy E; de Baulny HO; Ortez C; Pedrón CC; Pintos-Morell G; Pena-Quintana L; Ramadža DP; Rodrigues E; Scholl-Bürgi S; Sokal E; Summar ML; Thompson N; Vara R; Pinera IV; Walter JH; Williams M; Lund AM; Garcia-Cazorla A
J Inherit Metab Dis; 2015 Nov; 38(6):1059-74. PubMed ID: 25875216
[TBL] [Abstract][Full Text] [Related]
6. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Collado MS; Armstrong AJ; Olson M; Hoang SA; Day N; Summar M; Chapman KA; Reardon J; Figler RA; Wamhoff BR
Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238
[TBL] [Abstract][Full Text] [Related]
7. Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects.
Timmer C; Davids M; Nieuwdorp M; Levels JHM; Langendonk JG; Breederveld M; Ahmadi Mozafari N; Langeveld M
Mol Genet Metab Rep; 2021 Dec; 29():100794. PubMed ID: 34527515
[TBL] [Abstract][Full Text] [Related]
8. Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data.
Molema F; Martinelli D; Hörster F; Kölker S; Tangeraas T; de Koning B; Dionisi-Vici C; Williams M;
J Inherit Metab Dis; 2021 May; 44(3):593-605. PubMed ID: 32996606
[TBL] [Abstract][Full Text] [Related]
9. High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome.
Molema F; Haijes HA; Janssen MC; Bosch AM; van Spronsen FJ; Mulder MF; Verhoeven-Duif NM; Jans JJM; van der Ploeg AT; Wagenmakers MA; Rubio-Gozalbo ME; Brouwers MCGJ; de Vries MC; Fuchs S; Langendonk JG; Rizopoulos D; van Hasselt PM; Williams M
Clin Nutr; 2021 May; 40(5):3622-3630. PubMed ID: 33451859
[TBL] [Abstract][Full Text] [Related]
10. Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
Myles JG; Manoli I; Venditti CP
Curr Opin Clin Nutr Metab Care; 2018 Jan; 21(1):42-48. PubMed ID: 29035969
[TBL] [Abstract][Full Text] [Related]
11. Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.
Haijes HA; Jans JJM; van der Ham M; van Hasselt PM; Verhoeven-Duif NM
Orphanet J Rare Dis; 2020 Mar; 15(1):68. PubMed ID: 32143654
[TBL] [Abstract][Full Text] [Related]
12. Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy children.
Saleemani H; Horvath G; Stockler-Ipsiroglu S; Elango R
Mol Genet Metab; 2022 Jan; 135(1):56-62. PubMed ID: 34969640
[TBL] [Abstract][Full Text] [Related]
13. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M; Ottolenghi C; Valayannopoulos V; Arnoux JB; Barbier V; Habarou F; Desguerre I; Boddaert N; Bonnefont JP; Acquaviva C; Benoist JF; Rabier D; Touati G; de Lonlay P
Orphanet J Rare Dis; 2013 Sep; 8():148. PubMed ID: 24059531
[TBL] [Abstract][Full Text] [Related]
14. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
Manoli I; Myles JG; Sloan JL; Shchelochkov OA; Venditti CP
Genet Med; 2016 Apr; 18(4):386-95. PubMed ID: 26270765
[TBL] [Abstract][Full Text] [Related]
15. Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.
Burrage LC; Jain M; Gandolfo L; Lee BH; ; Nagamani SC
Mol Genet Metab; 2014; 113(1-2):131-5. PubMed ID: 25042691
[TBL] [Abstract][Full Text] [Related]
16. Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.
Parsons HG; Carter RJ; Unrath M; Snyder FF
J Inherit Metab Dis; 1990; 13(2):125-36. PubMed ID: 2116544
[TBL] [Abstract][Full Text] [Related]
17. Amino acid metabolism in patients with propionic acidaemia.
Scholl-Bürgi S; Sass JO; Zschocke J; Karall D
J Inherit Metab Dis; 2012 Jan; 35(1):65-70. PubMed ID: 21113738
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.
Touati G; Valayannopoulos V; Mention K; de Lonlay P; Jouvet P; Depondt E; Assoun M; Souberbielle JC; Rabier D; Ogier de Baulny H; Saudubray JM
J Inherit Metab Dis; 2006; 29(2-3):288-98. PubMed ID: 16763890
[TBL] [Abstract][Full Text] [Related]
20. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
Nashabat M; Obaid A; Al Mutairi F; Saleh M; Elamin M; Ahmed H; Ababneh F; Eyaid W; Alswaid A; Alohali L; Faqeih E; Aljeraisy M; Hussein MA; Alasmari A; Alfadhel M
BMC Pediatr; 2019 Jun; 19(1):195. PubMed ID: 31196016
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
