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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 29, 2006
The significance of reduced respiratory chain enzyme activities: clinical, biochemical and radiological associations
S R Mordekar, P Guthrie, J R Bonham, et al.
The Journal of Pediatrics
|
April 17, 1998
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype
A A Morris, S E Olpin, M Brivet, et al.
Pediatric Research
|
September 4, 1998
Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency
A A Morris, C V Lascelles, S E Olpin, et al.
Molecular Genetics and Metabolism Reports
|
May 11, 2018
Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
M Balasubramanian, T M Jenkins, R J Kirk, et al.
European Journal of Pediatrics
|
May 1, 1993
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient
R Moore, J F Glasgow, M A Bingham, et al.
Journal of Inherited Metabolic Disease
|
January 31, 2003
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man
S E Olpin, R J Pollitt, J McMenamin, et al.
Annals of Clinical Biochemistry
|
March 1, 1994
Quality assessment of urinary organic acid analysis
J R Bonham, M Downing, R J Pollitt, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 21, 2004
Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy
M Kinali, S E Olpin, P T Clayton, et al.
Journal of Inherited Metabolic Disease
|
January 27, 2005
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency
R K J Olsen, M Pourfarzam, A A M Morris, et al.
Prenatal Diagnosis
|
June 1, 1994
Prenatal diagnosis of glutathione synthase deficiency
N J Manning, N P Davies, S E Olpin, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 25) with videos related to
Sort By:
Page
of 3
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 29, 2006
The significance of reduced respiratory chain enzyme activities: clinical, biochemical and radiological associations
S R Mordekar, P Guthrie, J R Bonham, et al.
The Journal of Pediatrics
|
April 17, 1998
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype
A A Morris, S E Olpin, M Brivet, et al.
Pediatric Research
|
September 4, 1998
Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency
A A Morris, C V Lascelles, S E Olpin, et al.
Molecular Genetics and Metabolism Reports
|
May 11, 2018
Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
M Balasubramanian, T M Jenkins, R J Kirk, et al.
European Journal of Pediatrics
|
May 1, 1993
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient
R Moore, J F Glasgow, M A Bingham, et al.
Journal of Inherited Metabolic Disease
|
January 31, 2003
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man
S E Olpin, R J Pollitt, J McMenamin, et al.
Annals of Clinical Biochemistry
|
March 1, 1994
Quality assessment of urinary organic acid analysis
J R Bonham, M Downing, R J Pollitt, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 21, 2004
Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy
M Kinali, S E Olpin, P T Clayton, et al.
Journal of Inherited Metabolic Disease
|
January 27, 2005
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency
R K J Olsen, M Pourfarzam, A A M Morris, et al.
Prenatal Diagnosis
|
June 1, 1994
Prenatal diagnosis of glutathione synthase deficiency
N J Manning, N P Davies, S E Olpin, et al.
Page
of 3