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Annales De Pediatrie
|
April 1, 1989
[Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings]
H Sarda, V Henry, H Le Loc'h, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2003
The eye as a window to inborn errors of metabolism
B T Poll-The, L J Maillette de Buy Wenniger-Prick, P G Barth, et al.
European Journal of Pediatrics
|
January 1, 1992
Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts
B T Poll-The, T Billette de Villemeur, M Abitbol, et al.
The Journal of Clinical Investigation
|
August 1, 1994
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy
B Fournier, J M Saudubray, B Benichou, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency
C G Costa, L Dorland, I T de Almeida, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology
|
October 18, 2005
Membrane capacitance and conductance changes parallel mucin secretion in the human airway epithelium
Henry Danahay, Hazel C Atherton, Alan D Jackson, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology
|
January 1, 1988
Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: cytochemical and morphometric data
F Roels, M Pauwels, B T Poll-Thé, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
February 9, 2000
[Phenylketonuria: a children's disease in adulthood]
H W de Valk, L M de Sonneville, M Duran, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene
S M Houten, J Frenkel, W Kuis, et al.
American Journal of Medical Genetics
|
October 1, 1986
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases
F Roels, A Cornelis, B T Poll-The, et al.
Page
of 17
Search research articles
Search
Showing results (41-50 of 169) with videos related to
Sort By:
Page
of 17
Annales De Pediatrie
|
April 1, 1989
[Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings]
H Sarda, V Henry, H Le Loc'h, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2003
The eye as a window to inborn errors of metabolism
B T Poll-The, L J Maillette de Buy Wenniger-Prick, P G Barth, et al.
European Journal of Pediatrics
|
January 1, 1992
Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts
B T Poll-The, T Billette de Villemeur, M Abitbol, et al.
The Journal of Clinical Investigation
|
August 1, 1994
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy
B Fournier, J M Saudubray, B Benichou, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency
C G Costa, L Dorland, I T de Almeida, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology
|
October 18, 2005
Membrane capacitance and conductance changes parallel mucin secretion in the human airway epithelium
Henry Danahay, Hazel C Atherton, Alan D Jackson, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology
|
January 1, 1988
Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: cytochemical and morphometric data
F Roels, M Pauwels, B T Poll-Thé, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
February 9, 2000
[Phenylketonuria: a children's disease in adulthood]
H W de Valk, L M de Sonneville, M Duran, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene
S M Houten, J Frenkel, W Kuis, et al.
American Journal of Medical Genetics
|
October 1, 1986
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases
F Roels, A Cornelis, B T Poll-The, et al.
Page
of 17