Bremer HJ - Search Results

1

Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.

Mayatepek E, Wanders RJ, Becker M, Bremer HJ, Hoffmann GF. Mayatepek E, et al. Among authors: bremer hj. J Inherit Metab Dis. 1995;18(2):249-52. doi: 10.1007/BF00711780. J Inherit Metab Dis. 1995. PMID: 7564260 No abstract available.

2

5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.

Mayatepek E, Hoffmann GF, Larsson A, Becker K, Bremer HJ. Mayatepek E, et al. Among authors: bremer hj. J Inherit Metab Dis. 1995;18(1):83-4. doi: 10.1007/BF00711382. J Inherit Metab Dis. 1995. PMID: 7542714 No abstract available.

3

Sakaguchi reaction: a useful method for screening guanidinoacetate-methyltransferase deficiency.

Schulze A, Mayatepek E, Rating D, Bremer HJ. Schulze A, et al. Among authors: bremer hj. J Inherit Metab Dis. 1996;19(5):706. doi: 10.1007/BF01799854. J Inherit Metab Dis. 1996. PMID: 8892034 No abstract available.

4

Macrocephaly: an important indication for organic acid analysis.

Hoffmann GF, Trefz FK, Barth PG, Böhles HJ, Lehnert W, Christensen E, Valk J, Rating D, Bremer HJ. Hoffmann GF, et al. Among authors: bremer hj. J Inherit Metab Dis. 1991;14(3):329-32. doi: 10.1007/BF01811695. J Inherit Metab Dis. 1991. PMID: 1770785 No abstract available.

5

[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)].

Trefz FK, Hoffmann GF, Mayatepek E, Lichter-Konecki U, Weisser J, Otten A, Wendel U, Rating D, Bremer HJ. Trefz FK, et al. Among authors: bremer hj. Monatsschr Kinderheilkd. 1991 Nov;139(11):754-8. Monatsschr Kinderheilkd. 1991. PMID: 1775140 German.

6

Neurological manifestations of organic acid disorders.

Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Hoffmann GF, et al. Among authors: bremer hj. Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786. Eur J Pediatr. 1994. PMID: 7957396 Review.

7

Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency.

Mayatepek E, Hoffmann GF, Bremer HJ. Mayatepek E, et al. Among authors: bremer hj. J Pediatr. 1993 Jul;123(1):96-8. doi: 10.1016/s0022-3476(05)81548-3. J Pediatr. 1993. PMID: 8391572

8

Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?

Mayatepek E, Hoffmann GF, Baumgartner R, Schulze A, Jakobs C, Trefz FK, Bremer HJ. Mayatepek E, et al. Among authors: bremer hj. Eur J Pediatr. 1996 May;155(5):398-403. doi: 10.1007/BF01955272. Eur J Pediatr. 1996. PMID: 8741039

9

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D. Schulze A, et al. Among authors: bremer hj. J Pediatr. 1997 Oct;131(4):626-31. doi: 10.1016/s0022-3476(97)70075-1. J Pediatr. 1997. PMID: 9386672

10

[Selective screening for amino and organic acid inborn errors].

Hoffmann GF, Trefz FK, Rating D, Bremer HJ. Hoffmann GF, et al. Among authors: bremer hj. Wien Klin Wochenschr. 1992;104(21):651-7. Wien Klin Wochenschr. 1992. PMID: 1475969 Review. German.

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