Lakomek M - Search Results

1

Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis.

Pekrun A, Neubauer BA, Eber SW, Lakomek M, Seidel H, Schröter W. Pekrun A, et al. Among authors: lakomek m. Clin Genet. 1995 Apr;47(4):175-9. doi: 10.1111/j.1399-0004.1995.tb03955.x. Clin Genet. 1995. PMID: 7628118

2

Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden.

Neubauer BA, Eber SW, Lakomek M, Gahr M, Schröter W. Neubauer BA, et al. Among authors: lakomek m. Acta Haematol. 1990;83(4):206-10. doi: 10.1159/000205215. Acta Haematol. 1990. PMID: 2115718

3

[Diagnosis of pyruvate kinase deficiency in the presence of an elevated reticulocyte count].

Pekrun A, Lakomek M, Eber S, Konrad H, Schröter W. Pekrun A, et al. Among authors: lakomek m. Dtsch Med Wochenschr. 1995 Nov 24;120(47):1620-4. doi: 10.1055/s-2008-1055521. Dtsch Med Wochenschr. 1995. PMID: 7493563 German.

4

Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency.

Lakomek M, Huppke P, Neubauer B, Pekrun A, Winkler H, Schröter W. Lakomek M, et al. Ann Hematol. 1994 Nov;69(5):253-60. doi: 10.1007/BF01700280. Ann Hematol. 1994. PMID: 7948315

5

[Pyrimidine 5'-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia].

Pekrun A, Lakomek M, Eng W, Schröter W. Pekrun A, et al. Among authors: lakomek m. Dtsch Med Wochenschr. 1993 Sep 10;118(36):1276-80. doi: 10.1055/s-2008-1059451. Dtsch Med Wochenschr. 1993. PMID: 8375297 Review. German.

6

Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia.

Huppke P, Wünsch D, Pekrun A, Kind R, Winkler H, Schröter W, Lakomek M. Huppke P, et al. Among authors: lakomek m. Eur J Pediatr. 1997 Aug;156(8):605-9. doi: 10.1007/s004310050674. Eur J Pediatr. 1997. PMID: 9266190

7

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

Kugler W, Breme K, Laspe P, Muirhead H, Davies C, Winkler H, Schröter W, Lakomek M. Kugler W, et al. Among authors: lakomek m. Hum Genet. 1998 Oct;103(4):450-4. doi: 10.1007/s004390050849. Hum Genet. 1998. PMID: 9856489

8

Erythrocyte pyruvate kinase deficiency: relations of residual enzyme activity, altered regulation of defective enzymes and concentrations of high-energy phosphates with the severity of clinical manifestation.

Lakomek M, Neubauer B, von der Lühe A, Hoch G, Winkler H, Schröter W. Lakomek M, et al. Eur J Haematol. 1992 Aug;49(2):82-92. doi: 10.1111/j.1600-0609.1992.tb00036.x. Eur J Haematol. 1992. PMID: 1397245

9

Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.

Neubauer B, Lakomek M, Winkler H, Parke M, Hofferbert S, Schröter W. Neubauer B, et al. Among authors: lakomek m. Blood. 1991 May 1;77(9):1871-5. Blood. 1991. PMID: 2018831 Free article.

10

On the diagnosis of erythrocyte enzyme defects in the presence of high reticulocyte counts.

Lakomek M, Schröter W, De Maeyer G, Winkler H. Lakomek M, et al. Br J Haematol. 1989 Jul;72(3):445-51. doi: 10.1111/j.1365-2141.1989.tb07730.x. Br J Haematol. 1989. PMID: 2527553

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