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The Journal of Clinical Investigation
|
March 1, 1993
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts
S V Pande, M Brivet, A Slama, et al.
Molecular Genetics and Metabolism
|
February 1, 2003
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency
C Costa, J M Costa, A Slama, et al.
The Journal of Pediatrics
|
November 1, 1995
Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase
H Ogier de Baulny, A Slama, G Touati, et al.
Archives Francaises De Pediatrie
|
February 1, 1975
[Fructose 1,6-diphosphatase deficiency in 2 sisters]
M Odievre, M Brivet, N Moatti, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 14, 1998
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients
C Vianey-Saban, P Divry, M Brivet, et al.
Archives Francaises De Pediatrie
|
April 1, 1991
[Severe neurologic course of galactosemia. Default of myelisation caused by deficient synthesis of UDP-galactose?]
J J Choulot, M Brivet, P Virlon, et al.
Journal of Inherited Metabolic Disease
|
November 1, 2002
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome
M H Odièvre, A Lombès, P Dessemme, et al.
Molecular Genetics and Metabolism
|
December 23, 1999
Carnitine palmitoyltransferase deficiencies
J P Bonnefont, F Demaugre, C Prip-Buus, 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.
European Journal of Pediatrics
|
August 1, 1997
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique
C Jakobs, J Kneer, D Martin, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 48) with videos related to
Sort By:
Page
of 5
The Journal of Clinical Investigation
|
March 1, 1993
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts
S V Pande, M Brivet, A Slama, et al.
Molecular Genetics and Metabolism
|
February 1, 2003
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency
C Costa, J M Costa, A Slama, et al.
The Journal of Pediatrics
|
November 1, 1995
Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase
H Ogier de Baulny, A Slama, G Touati, et al.
Archives Francaises De Pediatrie
|
February 1, 1975
[Fructose 1,6-diphosphatase deficiency in 2 sisters]
M Odievre, M Brivet, N Moatti, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 14, 1998
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients
C Vianey-Saban, P Divry, M Brivet, et al.
Archives Francaises De Pediatrie
|
April 1, 1991
[Severe neurologic course of galactosemia. Default of myelisation caused by deficient synthesis of UDP-galactose?]
J J Choulot, M Brivet, P Virlon, et al.
Journal of Inherited Metabolic Disease
|
November 1, 2002
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome
M H Odièvre, A Lombès, P Dessemme, et al.
Molecular Genetics and Metabolism
|
December 23, 1999
Carnitine palmitoyltransferase deficiencies
J P Bonnefont, F Demaugre, C Prip-Buus, 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.
European Journal of Pediatrics
|
August 1, 1997
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique
C Jakobs, J Kneer, D Martin, et al.
Page
of 5