151 related articles for article (PubMed ID: 9266351)
1. Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.
Sebesta I; Krijt J; Kmoch S; Hartmannová H; Wojda M; Zeman J
J Inherit Metab Dis; 1997 Jul; 20(3):343-4. PubMed ID: 9266351
[No Abstract] [Full Text] [Related]
2. Genetic basis of adenylosuccinase deficiency in an Italian patient.
Verginelli D; Luckow B; Salerno C; Gross M
Adv Exp Med Biol; 1998; 431():323-5. PubMed ID: 9598084
[No Abstract] [Full Text] [Related]
3. Adenylosuccinate lyase deficiency in a Czech girl and two siblings.
Krijt J; Sebesta I; Svehlakova A; Zumrova A; Zeman J
Adv Exp Med Biol; 1994; 370():367-70. PubMed ID: 7660930
[No Abstract] [Full Text] [Related]
4. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.
Van den Berghe G; Vincent MF; Jaeken J
J Inherit Metab Dis; 1997 Jun; 20(2):193-202. PubMed ID: 9211192
[TBL] [Abstract][Full Text] [Related]
5. Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Gitiaux C; Ceballos-Picot I; Marie S; Valayannopoulos V; Rio M; Verrieres S; Benoist JF; Vincent MF; Desguerre I; Bahi-Buisson N
Eur J Hum Genet; 2009 Jan; 17(1):133-6. PubMed ID: 18830228
[TBL] [Abstract][Full Text] [Related]
6. Muscle energy metabolism in human adenylosuccinase deficiency. An in vivo 31P-NMR spectroscopy study.
Salerno C; Iotti S; Lodi R; Crifò C; Barbiroli B
Adv Exp Med Biol; 1998; 431():275-8. PubMed ID: 9598074
[No Abstract] [Full Text] [Related]
7. Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase.
Salerno C; Celli M; Finocchiaro R; D'Eufemia P; Iannetti P; Crifò C; Giardini O
Adv Exp Med Biol; 1998; 431():177-80. PubMed ID: 9598054
[No Abstract] [Full Text] [Related]
8. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
Chen BC; McGown IN; Thong MK; Pitt J; Yunus ZM; Khoo TB; Ngu LH; Duley JA
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S159-62. PubMed ID: 20177786
[TBL] [Abstract][Full Text] [Related]
9. Adenylosuccinate lyase deficiency: an update.
Van den Berghe G; Van den Bergh F; Vincent MF; Jaeken J
Adv Exp Med Biol; 1994; 370():363-6. PubMed ID: 7660929
[No Abstract] [Full Text] [Related]
10. An HPLC-based assay of adenylosuccinate lyase in erythrocytes.
Bierau J; Pooters IN; Visser D; Bakker JA
Nucleosides Nucleotides Nucleic Acids; 2011 Nov; 30(11):908-17. PubMed ID: 22060555
[TBL] [Abstract][Full Text] [Related]
11. Adenylosuccinate lyase deficiency.
Spiegel EK; Colman RF; Patterson D
Mol Genet Metab; 2006; 89(1-2):19-31. PubMed ID: 16839792
[TBL] [Abstract][Full Text] [Related]
12. Application of capillary zone electrophoresis for rapid screening of enzymatic defects in purine metabolism.
Salerno C; Crifò C
Adv Exp Med Biol; 1994; 370():811-4. PubMed ID: 7661029
[No Abstract] [Full Text] [Related]
13. Screening for inborn errors of purine synthesis.
Jaeken J; van den Berghe G
Lancet; 1989 Mar; 1(8636):500. PubMed ID: 2563871
[No Abstract] [Full Text] [Related]
14. A new diagnostic technique for adenylosuccinate lyase deficiency.
Domkin VD; Lazebnik TA; Roudneff AYu ; Smirnov MN
J Inherit Metab Dis; 1995; 18(3):291-4. PubMed ID: 7474894
[TBL] [Abstract][Full Text] [Related]
15. Anomalous response to intravenous fructose tolerance test in a case of deficit of adenylosuccinate lyase.
Salerno C; Crifò C; Capuozzo E; Giardini O
Adv Exp Med Biol; 1994; 370():371-4. PubMed ID: 7660931
[No Abstract] [Full Text] [Related]
16. [Adenylosuccinase deficiency].
Fujimori S
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):441-3. PubMed ID: 9590095
[No Abstract] [Full Text] [Related]
17. Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.
Van den Bergh F; Vincent MF; Jaeken J; Van den Berghe G
Adv Exp Med Biol; 1991; 309B():277-80. PubMed ID: 1781383
[No Abstract] [Full Text] [Related]
18. Adenylosuccinase deficiency.
Van den Berghe G; Jaeken J
Adv Exp Med Biol; 1986; 195 Pt A():27-33. PubMed ID: 3014834
[No Abstract] [Full Text] [Related]
19. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
Jurecka A; Zikanova M; Tylki-Szymanska A; Krijt J; Bogdanska A; Gradowska W; Mullerova K; Sykut-Cegielska J; Kmoch S; Pronicka E
Mol Genet Metab; 2008 Aug; 94(4):435-442. PubMed ID: 18524658
[TBL] [Abstract][Full Text] [Related]
20. Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
Sitaram S; Banka HC; Vassallo G; Pavaine J; Fairclough A; Wright R; Fairbanks L; Bierau J; Bowden L; Schwahn B; Horman A; Banka S
Am J Med Genet A; 2023 Jan; 191(1):234-237. PubMed ID: 36271826
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
