316 related articles for article (PubMed ID: 17382129)
1. Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.
Pissard S; de Montalembert M; Bachir D; Max-Audit I; Goossens M; Wajcman H; Bader-Meunier B
J Pediatr; 2007 Apr; 150(4):443-5. PubMed ID: 17382129
[TBL] [Abstract][Full Text] [Related]
2. Red cell enzymopathies as a model of inborn errors of metabolism.
Miwa S; Kanno H; Hirono A; Fujii H
Southeast Asian J Trop Med Public Health; 1995; 26 Suppl 1():112-9. PubMed ID: 8629088
[TBL] [Abstract][Full Text] [Related]
3. [From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency].
de Vooght KM; van Wijk R; Nieuwenhuis HK; Ploos van Amstel JK; Rijksen G; van Solinge WW
Ned Tijdschr Geneeskd; 2002 Sep; 146(39):1828-31. PubMed ID: 12382367
[TBL] [Abstract][Full Text] [Related]
4. [Prenatal diagnosis of homozygous pyruvate kinase deficiency].
Afriat R; Lecolier B; Prehu MO; Sauvanet E; Bercau G; Audit I; Galacteros F
J Gynecol Obstet Biol Reprod (Paris); 1995; 24(1):81-4. PubMed ID: 7730575
[TBL] [Abstract][Full Text] [Related]
5. Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.
Gupta N; Bianchi P; Fermo E; Kabra M; Warang P; Kedar P; Gupta N; Colah R
Prenat Diagn; 2007 Feb; 27(2):117-8. PubMed ID: 17191259
[TBL] [Abstract][Full Text] [Related]
6. Erythrocyte pyruvate kinase deficiency. A case of severe congenital hemolytic anemia.
O'Connor TA; Monzon CM; Clark FI
Mo Med; 1989 Feb; 86(2):92-4. PubMed ID: 2761512
[TBL] [Abstract][Full Text] [Related]
7. Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
Schymik I; Liebig M; Mueller M; Wendel U; Mayatepek E; Strauss AW; Wanders RJ; Spiekerkoetter U
J Pediatr; 2006 Jul; 149(1):128-30. PubMed ID: 16860141
[TBL] [Abstract][Full Text] [Related]
8. Ineffective erythropoiesis in the spleen of a patient with pyruvate kinase deficiency.
Aizawa S; Kohdera U; Hiramoto M; Kawakami Y; Aisaki K; Kobayashi Y; Miwa S; Fujii H; Kanno H
Am J Hematol; 2003 Sep; 74(1):68-72. PubMed ID: 12949894
[TBL] [Abstract][Full Text] [Related]
9. Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S; Max-Audit I; Skopinski L; Vasson A; Vivien P; Bimet C; Goossens M; Galacteros F; Wajcman H
Br J Haematol; 2006 Jun; 133(6):683-9. PubMed ID: 16704447
[TBL] [Abstract][Full Text] [Related]
10. First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.
Kedar PS; Nampoothiri S; Sreedhar S; Ghosh K; Shimizu K; Kanno H; Colah RB
Genet Mol Res; 2007 Jun; 6(2):470-5. PubMed ID: 17952871
[TBL] [Abstract][Full Text] [Related]
11. Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency.
Tanphaichitr VS; Suvatte V; Issaragrisil S; Mahasandana C; Veerakul G; Chongkolwatana V; Waiyawuth W; Ideguchi H
Bone Marrow Transplant; 2000 Sep; 26(6):689-90. PubMed ID: 11041572
[TBL] [Abstract][Full Text] [Related]
12. Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn.
Raphaël MF; Van Wijk R; Schweizer JJ; Schouten-van Meeteren NA; Kindermann A; van Solinge WW; Smiers FJ
Am J Hematol; 2007 Nov; 82(11):1025-8. PubMed ID: 17654506
[TBL] [Abstract][Full Text] [Related]
13. Red cell pyruvate kinase deficiency in neonatal jaundice cases in India.
Kedar PS; Warang P; Colah RB; Mohanty D
Indian J Pediatr; 2006 Nov; 73(11):985-8. PubMed ID: 17127778
[TBL] [Abstract][Full Text] [Related]
14. [Congenital hemolytic anemia with pyruvate-kinase deficiency].
Gulbis E; Weber A; Dechamps L; Denys P; Sokal G; Lohr G; Rudiger H; Blume K; Piret L; Dunjic A
Arch Fr Pediatr; 1970 Jan; 27(1):31-49. PubMed ID: 5439019
[No Abstract] [Full Text] [Related]
15. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
Boneh A; Andresen BS; Gregersen N; Ibrahim M; Tzanakos N; Peters H; Yaplito-Lee J; Pitt JJ
Mol Genet Metab; 2006 Jun; 88(2):166-70. PubMed ID: 16488171
[TBL] [Abstract][Full Text] [Related]
16. Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community.
Christensen RD; Eggert LD; Baer VL; Smith KN
J Perinatol; 2010 Mar; 30(3):233-6. PubMed ID: 20182430
[TBL] [Abstract][Full Text] [Related]
17. [Diagnosis and acute treatment of inborn metabolic diseases in infants].
Lund AM; Christensen E; Skovby F
Ugeskr Laeger; 2002 Nov; 164(48):5613-9. PubMed ID: 12523004
[TBL] [Abstract][Full Text] [Related]
18. Neonatal screening by DNA microarray: spots and chips.
Green NS; Pass KA
Nat Rev Genet; 2005 Feb; 6(2):147-51. PubMed ID: 15716909
[TBL] [Abstract][Full Text] [Related]
19. Pyruvate kinase deficiency: the genotype-phenotype association.
Zanella A; Fermo E; Bianchi P; Chiarelli LR; Valentini G
Blood Rev; 2007 Jul; 21(4):217-31. PubMed ID: 17360088
[TBL] [Abstract][Full Text] [Related]
20. Enzyme deficiencies in neonates with jaundice.
Casado A; Casado C; López-Fernández E; de la Torre R
Panminerva Med; 1995 Dec; 37(4):175-7. PubMed ID: 8710395
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
