Skladal D - Search Results

1

Plasma leptin in prepubertal patients with glycogen storage diseases.

Sass JO, Skladal D. Sass JO, et al. Among authors: skladal d. Horm Metab Res. 2000 Jan;32(1):44-6. doi: 10.1055/s-2007-978585. Horm Metab Res. 2000. PMID: 10727014 No abstract available.

2

Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.

Sass JO, Skladal D. Sass JO, et al. Among authors: skladal d. Pediatr Nephrol. 1999 Nov;13(9):912-6. doi: 10.1007/s004670050726. Pediatr Nephrol. 1999. PMID: 10603147

3

Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I.

Sass JO, Skladal D. Sass JO, et al. Among authors: skladal d. J Paediatr Child Health. 2000 Feb;36(1):91-3. doi: 10.1046/j.1440-1754.2000.00455.x. J Paediatr Child Health. 2000. PMID: 10723702

4

Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.

Skladal D, Sass JO, Geiger H, Geiger R, Mann C, Vreken P, Wanders RJ, Trawöger R. Skladal D, et al. J Pediatr Gastroenterol Nutr. 2000 Oct;31(4):448-52. doi: 10.1097/00005176-200010000-00023. J Pediatr Gastroenterol Nutr. 2000. PMID: 11045847 No abstract available.

5

Normal ascorbic acid in cerebrospinal fluid of patients with infantile neuronal ceroid-lipofuscinosis.

Sass JO, Skladal D, Brunner-Krainz M. Sass JO, et al. Among authors: skladal d. Metab Brain Dis. 1999 Mar;14(1):67-70. doi: 10.1023/a:1020613631353. Metab Brain Dis. 1999. PMID: 10348315

6

Methionine loading in a Down's syndrome patient with cerebral infarction.

Sass JO, Skladal D, Viertler E. Sass JO, et al. Among authors: skladal d. Ann Clin Biochem. 1999 Mar;36 ( Pt 2):252-5. doi: 10.1177/000456329903600225. Ann Clin Biochem. 1999. PMID: 10370751 No abstract available.

7

Odd-numbered long-chain fatty acids in propionic acidaemia.

Sperl W, Murr C, Skladal D, Sass JO, Suormala T, Baumgartner R, Wendel U. Sperl W, et al. Among authors: skladal d. Eur J Pediatr. 2000 Jan-Feb;159(1-2):54-8. doi: 10.1007/s004310050010. Eur J Pediatr. 2000. PMID: 10653330

8

Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid.

Sass JO, Skladal D, Zelger B, Romani N, Utermann B. Sass JO, et al. Among authors: skladal d. Arch Dermatol Res. 2004 Sep;296(4):188-91. doi: 10.1007/s00403-004-0483-2. Arch Dermatol Res. 2004. PMID: 15232704

9

Propionic acidemia revisited: a workshop report.

Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W. Sass JO, et al. Among authors: skladal d. Clin Pediatr (Phila). 2004 Nov-Dec;43(9):837-43. doi: 10.1177/000992280404300908. Clin Pediatr (Phila). 2004. PMID: 15583780

10

Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

Muro S, Rodríguez-Pombo P, Pérez B, Pérez-Cerdá C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M. Muro S, et al. Among authors: skladal d. Hum Mutat. 1999;14(1):89-90. doi: 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5. Hum Mutat. 1999. PMID: 10447268

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