Duran M - Search Results

1

[Molecular genetic aspects of phenylketonuria (PKU)].

Giltay JC, van Hoef AM, de Weger R, Duran M, Berger R, Beemer FA. Giltay JC, et al. Among authors: duran m. Tijdschr Kindergeneeskd. 1991 Jun;59(3):77-80. Tijdschr Kindergeneeskd. 1991. PMID: 1677790 Review. Dutch.

2

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA. Ausems MG, et al. Among authors: duran m. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

3

Isolated and contiguous glycerol kinase gene disorders: a review.

Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. Among authors: duran m. J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652. J Inherit Metab Dis. 2000. PMID: 11032329 Review.

4

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT. Sjarif DR, et al. Among authors: duran m. Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172. Eur J Hum Genet. 2004. PMID: 15026783

5

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT. Sjarif DR, et al. Among authors: duran m. J Med Genet. 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650. J Med Genet. 1998. PMID: 9719371 Free PMC article.

6

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.

Smeitink JA, Beemer FA, Espeel M, Donckerwolcke RA, Jakobs C, Wanders RJ, Schutgens RB, Roels F, Duran M, Dorland L, et al. Smeitink JA, et al. Among authors: duran m. J Inherit Metab Dis. 1992;15(3):377-80. doi: 10.1007/BF02435981. J Inherit Metab Dis. 1992. PMID: 1405474 No abstract available.

7

Selective screening for amino acid disorders.

Duran M, Dorland L, de Bree PK, Berger R. Duran M, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S33-7. doi: 10.1007/BF02138775. Eur J Pediatr. 1994. PMID: 7957384

8

Hyperketonaemia in glycerol kinase deficiency.

Sjarif DR, Dorland L, Sperl W, de Koning TJ, Beemer FA, Poll-The BT, Duran M. Sjarif DR, et al. Among authors: duran m. J Inherit Metab Dis. 2000 Nov;23(7):760-4. doi: 10.1023/a:1005680211483. J Inherit Metab Dis. 2000. PMID: 11117440 No abstract available.

9

Phenylpyruvate, fetal damage, and maternal phenylketonuria syndrome.

Dorland L, Poll-The BT, Duran M, Smeitink JA, Berger R. Dorland L, et al. Among authors: duran m. Lancet. 1993 May 22;341(8856):1351-2. doi: 10.1016/0140-6736(93)90866-f. Lancet. 1993. PMID: 8098485 No abstract available.

10

Group tests for selective screening of inborn errors of metabolism.

Duran M, Dorland L, Wadman SK, Berger R. Duran M, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S27-32. doi: 10.1007/BF02138774. Eur J Pediatr. 1994. PMID: 7957383

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