Jakobs C - Search Results

1

Jakobs C, Schweitzer S, Dorland B. Jakobs C, et al. Eur J Pediatr. 1995;154(7 Suppl 2):S50-2. doi: 10.1007/BF02143804. Eur J Pediatr. 1995. PMID: 7671965

2

Long-term outcome in 134 patients with galactosaemia.

Schweitzer S, Shin Y, Jakobs C, Brodehl J. Schweitzer S, et al. Among authors: jakobs c. Eur J Pediatr. 1993 Jan;152(1):36-43. doi: 10.1007/BF02072514. Eur J Pediatr. 1993. PMID: 8444204

3

D-2-hydroxyglutaric aciduria: further clinical delineation.

van der Knaap MS, Jakobs C, Hoffmann GF, Duran M, Muntau AC, Schweitzer S, Kelley RI, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Eeg-Olofsson O. van der Knaap MS, et al. Among authors: jakobs c. J Inherit Metab Dis. 1999 Jun;22(4):404-13. doi: 10.1023/a:1005548005393. J Inherit Metab Dis. 1999. PMID: 10407777

4

Prenatal diagnosis of galactosemia.

Jakobs C, Kleijer WJ, Allen J, Holton JB. Jakobs C, et al. Eur J Pediatr. 1995;154(7 Suppl 2):S33-6. doi: 10.1007/BF02143800. Eur J Pediatr. 1995. PMID: 7671961

5

Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia.

Jakobs C, Kleijer WJ, Bakker HD, van Gennip AH, Przyrembel H, Niermeijer MF. Jakobs C, et al. Prenat Diagn. 1988 Nov;8(9):641-5. doi: 10.1002/pd.1970080903. Prenat Diagn. 1988. PMID: 3211853 No abstract available.

6

Plasma polyol levels in patients with cataract.

Jakobs C, Douwes AC, Brockstedt M, Stellaard F, Endres W, Shin YS. Jakobs C, et al. J Inherit Metab Dis. 1990;13(4):517-22. doi: 10.1007/BF01799509. J Inherit Metab Dis. 1990. PMID: 2122118

7

Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion.

van der Klei-van Moorsel JM, Smit LM, Brockstedt M, Jakobs C, Dorche C, Duran M. van der Klei-van Moorsel JM, et al. Among authors: jakobs c. Eur J Pediatr. 1991 Jan;150(3):196-7. doi: 10.1007/BF01963565. Eur J Pediatr. 1991. PMID: 2044591

8

A new case of hyperargininaemia: neurological and biochemical findings prior to and during dietary treatment.

Brockstedt M, Smit LM, de Grauw AJ, van der Klei-van Moorsel JM, Jakobs C. Brockstedt M, et al. Among authors: jakobs c. Eur J Pediatr. 1990 Feb;149(5):341-3. doi: 10.1007/BF02171562. Eur J Pediatr. 1990. PMID: 2311630

9

Elevated plasma galactitol levels in patients with congenital cataracts without apparent enzyme defect.

Jakobs C, Douwes AC, Kok R, de Jong A, Endres W, Shin YS. Jakobs C, et al. Eur J Pediatr. 1988 May;147(4):446. doi: 10.1007/BF00496438. Eur J Pediatr. 1988. PMID: 3396605 No abstract available.

10

Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications.

Samson JF, Barth PG, de Vries JI, Menko FH, Ruitenbeek W, van Oost BA, Jakobs C. Samson JF, et al. Among authors: jakobs c. Eur J Pediatr. 1994 Jul;153(7):510-6. doi: 10.1007/BF01957007. Eur J Pediatr. 1994. PMID: 7957369

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