Christensen E - Search Results

1

Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.

Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W. Christensen E, et al. J Inherit Metab Dis. 1993;16(3):553-6. doi: 10.1007/BF00711679. J Inherit Metab Dis. 1993. PMID: 7609450 No abstract available.

2

A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.

Christensen E, Van Eldere J, Brandt NJ, Schutgens RB, Wanders RJ, Eyssen HJ. Christensen E, et al. J Inherit Metab Dis. 1990;13(3):363-6. doi: 10.1007/BF01799396. J Inherit Metab Dis. 1990. PMID: 2122101 No abstract available.

3

Sarcosinaemia in a patient with Usher syndrome.

Christensen E, Brandt NJ, Rosenberg T. Christensen E, et al. J Inherit Metab Dis. 1989;12(4):487-8. doi: 10.1007/BF01802049. J Inherit Metab Dis. 1989. PMID: 2482914 No abstract available.

4

Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals.

Christensen E, Brandt NJ, Laxdal T. Christensen E, et al. J Inherit Metab Dis. 1987;10(2):187-94. doi: 10.1007/BF01800046. J Inherit Metab Dis. 1987. PMID: 3116337

5

The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.

Christensen E, Brandt NJ, Rosenberg T, Bömers K, Jakobs C. Christensen E, et al. J Inherit Metab Dis. 1994;17(3):287-90. doi: 10.1007/BF00711809. J Inherit Metab Dis. 1994. PMID: 7528828 No abstract available.

6

Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.

Gregersen N, Kølvraa S, Rasmussen K, Christensen E, Brandt NJ, Ebbesen F, Hansen FH. Gregersen N, et al. Among authors: christensen e. J Inherit Metab Dis. 1980;3(3):67-72. doi: 10.1007/BF02312527. J Inherit Metab Dis. 1980. PMID: 6158623

7

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

Schwartz M, Christensen E, Superti-Furga A, Brandt NJ. Schwartz M, et al. Among authors: christensen e. Hum Genet. 1998 Apr;102(4):452-8. doi: 10.1007/s004390050720. Hum Genet. 1998. PMID: 9600243

8

Glutaric aciduria in two brothers.

Brandt NJ, Gregersen N, Christensen E, Rasmussen K. Brandt NJ, et al. Among authors: christensen e. J Inherit Metab Dis. 1978;1(1):13-4. doi: 10.1007/BF01805707. J Inherit Metab Dis. 1978. PMID: 117228 No abstract available.

9

Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus.

Christensen E, Brandt NJ. Christensen E, et al. J Inherit Metab Dis. 1978;1(4):167-9. doi: 10.1007/BF01805589. J Inherit Metab Dis. 1978. PMID: 117252

10

Citrullinaemia: the possibility of prenatal diagnosis.

Christensen E, Brandt NJ, Philip J, Kennaway NG. Christensen E, et al. J Inherit Metab Dis. 1980;3(3):73-5. doi: 10.1007/BF02312528. J Inherit Metab Dis. 1980. PMID: 6775139

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