Stöckler S - Search Results

1

Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies.

Sperl W, Ruitenbeek W, Sengers RC, Trijbels JM, Bentlage H, Wraith JE, Heilmann C, Stöckler S, Binder C, Korenke GC, et al. Sperl W, et al. Among authors: stockler s. Eur J Pediatr. 1992 Mar;151(3):192-5. doi: 10.1007/BF01954382. Eur J Pediatr. 1992. PMID: 1601011

2

Glyceroltrioleate/glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/adrenomyeloneuropathy: effect on clinical, biochemical and neurophysiological parameters.

Korenke GC, Hunneman DH, Kohler J, Stöckler S, Landmark K, Hanefeld F. Korenke GC, et al. Among authors: stockler s. Eur J Pediatr. 1995 Jan;154(1):64-70. doi: 10.1007/BF01972976. Eur J Pediatr. 1995. PMID: 7895759

3

Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.

Stöckler S, Marescau B, De Deyn PP, Trijbels JM, Hanefeld F. Stöckler S, et al. Metabolism. 1997 Oct;46(10):1189-93. doi: 10.1016/s0026-0495(97)90215-8. Metabolism. 1997. PMID: 9322805 Free article.

4

Liposomal amphotericin-B (AmBisome) for treatment of cutaneous widespread candidosis in an infant with methylmalonic acidaemia.

Stöckler S, Lackner H, Ginter G, Schwinger W, Plecko B, Müller W. Stöckler S, et al. Eur J Pediatr. 1993 Dec;152(12):981-3. doi: 10.1007/BF01957220. Eur J Pediatr. 1993. PMID: 8131816

5

Decreased platelet membrane anisotropy in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides.

Stöckler S, Opper C, Greinacher A, Hunneman DH, Korenke GC, Unkrig CJ, Hanefeld F. Stöckler S, et al. J Inherit Metab Dis. 1997 Mar;20(1):54-8. doi: 10.1023/a:1005309623452. J Inherit Metab Dis. 1997. PMID: 9061568

6

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: stockler s. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901

7

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Morava E, et al. Among authors: stockler s. Pediatrics. 2012 Oct;130(4):e1034-9. doi: 10.1542/peds.2011-2711. Epub 2012 Sep 10. Pediatrics. 2012. PMID: 22966035

8

Asymptomatic lesions of the basal ganglia in a patient with methylmalonic aciduria.

Stöckler S, Slavc I, Ebner F, Baumgartner R. Stöckler S, et al. Eur J Pediatr. 1992 Dec;151(12):920. doi: 10.1007/BF01954135. Eur J Pediatr. 1992. PMID: 1473551 No abstract available.

9

Ornithine transcarbamylase variant in a male patient.

Stöckler S, Grossschädl F, Bachmann C, Roscher A. Stöckler S, et al. J Inherit Metab Dis. 1987;10(3):272. doi: 10.1007/BF01800077. J Inherit Metab Dis. 1987. PMID: 3123789 No abstract available.

10

Clearance of toxic metabolites during therapy for inborn errors of metabolism.

Ring E, Zobel G, Stöckler S. Ring E, et al. Among authors: stockler s. J Pediatr. 1990 Aug;117(2 Pt 1):349-50. doi: 10.1016/s0022-3476(05)80585-2. J Pediatr. 1990. PMID: 2380843 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

102 results

Search Page

Filters