Beemer FA - Search Results

1

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency.

de Koning TJ, Klomp LW, van Oppen AC, Beemer FA, Dorland L, van den Berg I, Berger R. de Koning TJ, et al. Among authors: beemer fa. Lancet. 2004 Dec 18-31;364(9452):2221-2. doi: 10.1016/S0140-6736(04)17596-X. Lancet. 2004. PMID: 15610810

2

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: beemer fa. 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.

3

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: beemer fa. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

4

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

Langius FA, Waterham HR, Romeijn GJ, Oostheim W, de Barse MM, Dorland L, Duran M, Beemer FA, Wanders RJ, Poll-The BT. Langius FA, et al. Among authors: beemer fa. Am J Med Genet A. 2003 Sep 15;122A(1):24-9. doi: 10.1002/ajmg.a.20207. Am J Med Genet A. 2003. PMID: 12949967

5

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.

De Koning TJ, Sandkuijl LA, De Schryver JE, Hennekam EA, Beemer FA, Houwen RH. De Koning TJ, et al. Among authors: beemer fa. Am J Med Genet. 1995 Jul 3;57(3):479-82. doi: 10.1002/ajmg.1320570324. Am J Med Genet. 1995. PMID: 7677155

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: beemer fa. J Inherit Metab Dis. 1992;15(3):377-80. doi: 10.1007/BF02435981. J Inherit Metab Dis. 1992. PMID: 1405474 No abstract available.

7

Isolated glycerol kinase deficiency and Fanconi anemia.

Sjarif DR, Révész T, de Koning TJ, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. Among authors: beemer fa. Am J Med Genet. 2001 Mar 1;99(2):159-60. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1137>3.0.co;2-4. Am J Med Genet. 2001. PMID: 11241478 No abstract available.

8

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.

Wadman SK, Berger R, Duran M, de Bree PK, Stoker-de Vries SA, Beemer FA, Weits-Binnerts JJ, Penders TJ, van der Woude JK. Wadman SK, et al. Among authors: beemer fa. J Inherit Metab Dis. 1985;8 Suppl 2:113-4. doi: 10.1007/BF01811484. J Inherit Metab Dis. 1985. PMID: 3930854 No abstract available.

9

[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: beemer fa. Tijdschr Kindergeneeskd. 1991 Jun;59(3):77-80. Tijdschr Kindergeneeskd. 1991. PMID: 1677790 Review. Dutch.

10

Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.

Wadman SK, Duran M, Beemer FA, Cats BP, Johnson JL, Rajagopalan KV, Saudubray JM, Ogier H, Charpentier C, Berger R, et al. Wadman SK, et al. Among authors: beemer fa. J Inherit Metab Dis. 1983;6 Suppl 1:78-83. doi: 10.1007/BF01811328. J Inherit Metab Dis. 1983. PMID: 6413778

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