123 related articles for article (PubMed ID: 6790857)
1. Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby.
Congdon PJ; Haigh D; Smith R; Green A; Pollitt RJ
J Inherit Metab Dis; 1981; 4(2):79-80. PubMed ID: 6790857
[TBL] [Abstract][Full Text] [Related]
2. Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes.
Pollitt RJ; Green A; Smith R
J Inherit Metab Dis; 1985; 8(2):75-9. PubMed ID: 3939535
[TBL] [Abstract][Full Text] [Related]
3. 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism.
Ko FJ; Nyhan WL; Wolff J; Barshop B; Sweetman L
Pediatr Res; 1991 Oct; 30(4):322-6. PubMed ID: 1956714
[TBL] [Abstract][Full Text] [Related]
4. [3-Hydroxyisobutyric aciduria (3-hydroxyisobutyric acid dehydrogenase deficiency)].
Yoshida I
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):317-9. PubMed ID: 9590056
[No Abstract] [Full Text] [Related]
5. 3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
Sasarman F; Ferdinandusse S; Sinasac DS; Fung E; Sparkes R; Reeves M; Rombough C; Sass JO; Voit R; Ruiter JPN; Koster J; Waterham HR; Pasquini E; Donati MA; Marquardt T; Wanders RJA; Al-Hertani W
J Inherit Metab Dis; 2022 May; 45(3):445-455. PubMed ID: 35174513
[TBL] [Abstract][Full Text] [Related]
6. Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry.
Podebrad F; Heil M; Beck T; Mosandl A; Sewell AC; Böhles H
Clin Chim Acta; 2000 Feb; 292(1-2):93-105. PubMed ID: 10686279
[TBL] [Abstract][Full Text] [Related]
7. 3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
Meyer M; Hollenbeck JC; Reunert J; Seelhöfer A; Rust S; Fobker M; Biskup S; Och U; Linden M; Sass JO; Marquardt T
J Inherit Metab Dis; 2021 Nov; 44(6):1323-1329. PubMed ID: 34176136
[TBL] [Abstract][Full Text] [Related]
8. 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
Sass JO; Walter M; Shield JP; Atherton AM; Garg U; Scott D; Woods CG; Smith LD
J Inherit Metab Dis; 2012 May; 35(3):437-42. PubMed ID: 21863277
[TBL] [Abstract][Full Text] [Related]
9. Increased urinary metabolite excretion during fasting in disorders of propionate metabolism.
Thompson GN; Chalmers RA
Pediatr Res; 1990 Apr; 27(4 Pt 1):413-6. PubMed ID: 2342832
[TBL] [Abstract][Full Text] [Related]
10. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
Loupatty FJ; van der Steen A; Ijlst L; Ruiter JP; Ofman R; Baumgartner MR; Ballhausen D; Yamaguchi S; Duran M; Wanders RJ
Mol Genet Metab; 2006 Mar; 87(3):243-8. PubMed ID: 16466957
[TBL] [Abstract][Full Text] [Related]
11. Tracer studies of the interconversion of R- and S-methylmalonic semialdehydes in man.
Manning NJ; Pollitt RJ
Biochem J; 1985 Oct; 231(2):481-4. PubMed ID: 4062908
[TBL] [Abstract][Full Text] [Related]
12. Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
DelValle JA; Merinero B; Jiménez A; García MJ; Ugarte M; Omeñaca F; Neustadt G; Quero J
J Inherit Metab Dis; 1982; 5(2):121-4. PubMed ID: 6820422
[TBL] [Abstract][Full Text] [Related]
13. Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.
Konkoľová J; Chandoga J; Kováčik J; Repiský M; Kramarová V; Paučinová I; Böhmer D
BMC Med Genet; 2017 May; 18(1):59. PubMed ID: 28569194
[TBL] [Abstract][Full Text] [Related]
14. Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.
Iles RA; Chalmers RA; Hind AJ
Clin Chim Acta; 1986 Dec; 161(2):173-89. PubMed ID: 3802528
[TBL] [Abstract][Full Text] [Related]
15. 3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.
Di Rocco M; Caruso U; Moroni I; Lupino S; Lamantea E; Fantasia AR; Borrone C; Gibson KM
J Inherit Metab Dis; 1999 Jun; 22(5):593-8. PubMed ID: 10399091
[TBL] [Abstract][Full Text] [Related]
16. Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.
Roe CR; Struys E; Kok RM; Roe DS; Harris RA; Jakobs C
Mol Genet Metab; 1998 Sep; 65(1):35-43. PubMed ID: 9787093
[TBL] [Abstract][Full Text] [Related]
17. Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.
Chitayat D; Meagher-Villemure K; Mamer OA; O'Gorman A; Hoar DI; Silver K; Scriver CR
J Pediatr; 1992 Jul; 121(1):86-9. PubMed ID: 1625099
[TBL] [Abstract][Full Text] [Related]
18. Creatine metabolism during metabolic perturbations in patients with organic acidurias.
Davies SE; Iles RA; Stacey TE; Chalmers RA
Clin Chim Acta; 1990 Dec; 194(2-3):203-17. PubMed ID: 1709598
[TBL] [Abstract][Full Text] [Related]
19. Pitfalls in aminoacid and organic acid analysis: 3-hydroxypropionic aciduria.
Bachmann C; Boulat O; Meyrat BJ; Colombo JP; Pilloud P
Eur J Pediatr; 1994; 153(7 Suppl 1):S23-6. PubMed ID: 7957382
[TBL] [Abstract][Full Text] [Related]
20. A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism.
Divry P; Baltassat P; Rolland MO; Cotte J; Hermier M; Duran M; Wadman SK
Clin Chim Acta; 1983 Apr; 129(3):303-9. PubMed ID: 6133657
[No Abstract] [Full Text] [Related]
[Next] [New Search]
