E-LIB Suche - Ergebnisse für: Olpin, S

1

Mitochondrial disease and lipid storage myopathy due to mut..:

Fratter, C. ; Dombi, E. ; Carver, J....
Neuromuscular Disorders. 27 (2017) - p. S21 , 2017

Link: https://doi.org/10.1016/..

2

Defects in mitochondrial DNA (mtDNA) replication cause mtDN..:

Lodge, T. ; Liao, C. ; Fratter, C....
Neuromuscular Disorders. 27 (2017) - p. S23-S24 , 2017

Link: https://doi.org/10.1016/..

3

Newborn Screening for MCAD Deficiency: Experience of the Fi..:

Horvath, Gabriella A. ; Davidson, A. G. F. ; Stockler-Ipsiroglu, Sylvia G....
Canadian Journal of Public Health. 99 (2008) 4 - p. 276-280 , 2008

Link: https://doi.org/10.1007/..

4

Newborn Screening for MCAD Deficiency: Experience of the Fi..:

Horvath, Gabriella A. ; Olpin, S. ; Davidson, A.G.F....
Canadian Journal of Public Health / Revue Canadienne de Sante'e Publique. 99 (2008) 4 - p. 276-280 , 2008

Link: https://www.jstor.org/st..

5

Clinical, enzymatic and molecular characterization of nine ..:

Salomons, G. S. ; Jakobs, C. ; Pope, L. Landegge...
Journal of Inherited Metabolic Disease. 30 (2006) 1 - p. 23-28 , 2006

Link: https://doi.org/10.1007/..

6

Carnitine transporter defect: Diagnosis in asymptomatic adu..:

Vijay, S. ; Patterson, A. ; Olpin, S....
Journal of Inherited Metabolic Disease. 29 (2006) 5 - p. 627-630 , 2006

Link: https://doi.org/10.1007/..

7

Accumulation of Krebs cycle intermediates and over-expressi..:

Pollard, P.J. ; Brière, J.J. ; Alam, N.A....
Human Molecular Genetics. 14 (2005) 15 - p. 2231-2239 , 2005

Link: https://doi.org/10.1093/..

8

Fumarate hydratase mutations and predisposition to cutaneou..:

Alam, N.A. ; Olpin, S. ; Leigh, I.M.
British Journal of Dermatology. 153 (2005) 1 - p. 11-17 , 2005

Link: https://doi.org/10.1111/..

9

Trifunctional protein deficiency: Three families with signi..:

Chakrapani, A. ; Olpin, S. ; Cleary, M....
Journal of Inherited Metabolic Disease. 23 (2000) 8 - p. 826-834 , 2000

Link: https://doi.org/10.1023/..

10

DNA‐based prenatal diagnosis for very‐long‐ chain acyl‐CoA ..:

Andresen, B. S. ; Olpin, S. ; Kvittingen, E. A....
Journal of Inherited Metabolic Disease. 22 (1999) 3 - p. 281-285 , 1999

Link: https://doi.org/10.1023/..

11

Familial hypercholesterolaemia: pilot study to identify chi..:

Taylor, C J ; Olpin, S ; Rattenbury, J...
Journal of Clinical Pathology. 46 (1993) 8 - p. 730-733 , 1993

Link: https://doi.org/10.1136/..

12

Response to Finsterer: CPT-II deficiency needs to be detect..:

Balasubramanian, M. ; Jenkins, T.M. ; Kirk, R.J....
Molecular Genetics and Metabolism Reports. 16 (2018) - p. 12 , 2018

Link: https://doi.org/10.1016/..

13

Recurrent rhabdomyolysis caused by carnitine palmitoyltrans..:

Balasubramanian, M. ; Jenkins, T.M. ; Kirk, R.J....
Molecular Genetics and Metabolism Reports. 15 (2018) - p. 69-70 , 2018

Link: https://doi.org/10.1016/..

14

G.P.22:

Scalco, R.S. ; Pitceathly, R.D.S. ; Gardiner, A....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 801 , 2014

Link: https://doi.org/10.1016/..

15

P038 Combined defects of the pyruvate dehydrogenase complex..:

Ng, J. ; Sharrard, M.J. ; Olpin, S.E...
European Journal of Paediatric Neurology. 13 (2009) - p. S33 , 2009

Link: https://doi.org/10.1016/..