180 related articles for article (PubMed ID: 6796762)
1. Propionic acidaemia presenting with pancytopaenia in infancy.
Sweetman L; Nyhan WL; Cravens J; Zomer Y; Plunket DC
J Inherit Metab Dis; 1980; 2(3):65-9. PubMed ID: 6796762
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
Chadefaux B; Augereau C; Rabier D; Rocchiccioli F; Boué J; Oury JF; Kamoun P
Prenat Diagn; 1988 Feb; 8(2):161-4. PubMed ID: 3362779
[TBL] [Abstract][Full Text] [Related]
4. An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
Pérez-Cerdá C; Merinero B; Martí M; Cabrera JC; Peña L; García MJ; Gangoiti J; Sanz P; Rodríguez-Pombo P; Hoenicka J; Richard E; Muro S; Ugarte M
Eur J Pediatr; 1998 Jan; 157(1):50-2. PubMed ID: 9461363
[TBL] [Abstract][Full Text] [Related]
5. Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.
Rolland MO; Divry P; Mandon G; Guibaud P; Mathieu M; Sournies G; Thoulon JM
J Inherit Metab Dis; 1990; 13(3):345-8. PubMed ID: 2122098
[No Abstract] [Full Text] [Related]
6. An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA.
Ohura T; Narisawa K; Tada K; Iinuma K
J Inherit Metab Dis; 1999 Jun; 22(5):676-7. PubMed ID: 10399105
[No Abstract] [Full Text] [Related]
7. Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
Bergstrøm T; Greter J; Levin AH; Steen G; Tryding N; Wass U
Scand J Clin Lab Invest; 1981 Apr; 41(2):117-26. PubMed ID: 7313494
[TBL] [Abstract][Full Text] [Related]
8. Normal growth and development with unrestricted protein intake after severe infantile propionic acidaemia.
Luder AS; Yannicelli S; Green CL
J Inherit Metab Dis; 1989; 12(3):307-11. PubMed ID: 2515371
[TBL] [Abstract][Full Text] [Related]
9. A simple isotopic technique for assessing vitamin responsiveness in vivo in propionic acidaemia.
Thompson GN; Bresson JL; Bonnefont JP; Walter JH; Read MA; Saudubray JM; Leonard JV; Halliday D
J Inherit Metab Dis; 1990; 13(3):349-51. PubMed ID: 2122099
[No Abstract] [Full Text] [Related]
10. A study of the ultrastructure of the organs and of cultured fibroblasts incubated with isoleucine from a patient with propionic acidemia.
Kott-Blumenkranz R; Pappas CT; Bensch KG
Hum Pathol; 1981 Dec; 12(12):1141-8. PubMed ID: 7333577
[No Abstract] [Full Text] [Related]
11. Pyroglutamic aciduria in propionyl CoA carboxylase deficiency.
Morishita H; Nagaya S; Nakajima T; Kawase A; Ohya A; Sugiyama S; Kamiya K; Watanabe I; Togari H; Suzuki Y
J Inherit Metab Dis; 1984; 7(3):139-40. PubMed ID: 6438400
[No Abstract] [Full Text] [Related]
12. Neurologic nonmetabolic presentation of propionic acidemia.
Nyhan WL; Bay C; Beyer EW; Mazi M
Arch Neurol; 1999 Sep; 56(9):1143-7. PubMed ID: 10488817
[TBL] [Abstract][Full Text] [Related]
13. Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
Harris DJ; Thompson RM; Wolf B; Yang BI
J Med Genet; 1981 Apr; 18(2):156-7. PubMed ID: 7241536
[TBL] [Abstract][Full Text] [Related]
14. Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.
Ohura T; Narisawa K; Tada K
J Inherit Metab Dis; 1993; 16(5):863-7. PubMed ID: 8295402
[No Abstract] [Full Text] [Related]
15. [Blood propionic acid with hyperammonemic coma].
Stöckler S; Kastner U; Pokits B; Müller W; Roscher A
Klin Padiatr; 1987; 199(5):348-50. PubMed ID: 3682709
[TBL] [Abstract][Full Text] [Related]
16. Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
Kuhara T; Shinka T; Matsuo M; Matsumoto I
Clin Chim Acta; 1982 Aug; 123(1-2):101-9. PubMed ID: 7116632
[TBL] [Abstract][Full Text] [Related]
17. Treatment of a neonate with propionic acidaemia and severe hyperammonaemia by peritoneal dialysis.
Robert MF; Schultz DJ; Wolf B; Cochran WD; Schwartz AL
Arch Dis Child; 1979 Dec; 54(12):962-5. PubMed ID: 533302
[TBL] [Abstract][Full Text] [Related]
18. Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.
Pérez-Cerdá C; Rodríguez-Pombo P; Ugarte M
J Inherit Metab Dis; 1994; 17(6):661-3. PubMed ID: 7707688
[No Abstract] [Full Text] [Related]
19. Identification of 3-hydroxy-3-ethylglutaric acid in urine of patients with propionic acidaemia.
Kuhara T; Inoue Y; Shinka T; Matsumoto I; Matsuo M
Biomed Mass Spectrom; 1983 Dec; 10(12):629-32. PubMed ID: 6200156
[TBL] [Abstract][Full Text] [Related]
20. [Propionic acidemia].
Ohura T
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):575-8. PubMed ID: 3270866
[No Abstract] [Full Text] [Related]
[Next] [New Search]
