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Journal of Inherited Metabolic Disease
|
January 1, 1989
Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment
F A Wijburg, P G Barth, W Ruitenbeek, et al.
The Journal of Investigative Dermatology
|
May 8, 1999
A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome
M A Willemsen, P M Steijlen, J G de Jong, et al.
Biochimica Et Biophysica Acta
|
March 24, 1993
Subcellular fractionation of cultured normal human melanocytes: new insights into the relationship of melanosomes with lysosomes and peroxisomes
N P Smit, C W van Roermund, H M Aerts, et al.
Annals of Neurology
|
October 24, 1997
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency
C Dionisi-Vici, W Ruitenbeek, G Fariello, et al.
Journal of Lipid Research
|
January 1, 1992
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography
H J ten Brink, F Stellaard, C M van den Heuvel, et al.
Clinical Biochemistry
|
February 19, 2002
Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS
M F Silva, J Selhorst, H Overmars, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts
R B Schutgens, R J Wanders, C Jakobs, et al.
European Journal of Pediatrics
|
February 1, 2000
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings
L Van Maldergem, D Tuerlinckx, R J Wanders, et al.
Clinical Neurology and Neurosurgery
|
June 1, 1993
Delay in diagnosis of X-linked adrenoleukodystrophy
B M van Geel, J Assies, E B Haverkort, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
S Kemp, P A Mooyer, P A Bolhuis, et al.
Page
of 50
Search research articles
Search
Showing results (371-380 of 497) with videos related to
Sort By:
Page
of 50
Journal of Inherited Metabolic Disease
|
January 1, 1989
Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment
F A Wijburg, P G Barth, W Ruitenbeek, et al.
The Journal of Investigative Dermatology
|
May 8, 1999
A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome
M A Willemsen, P M Steijlen, J G de Jong, et al.
Biochimica Et Biophysica Acta
|
March 24, 1993
Subcellular fractionation of cultured normal human melanocytes: new insights into the relationship of melanosomes with lysosomes and peroxisomes
N P Smit, C W van Roermund, H M Aerts, et al.
Annals of Neurology
|
October 24, 1997
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency
C Dionisi-Vici, W Ruitenbeek, G Fariello, et al.
Journal of Lipid Research
|
January 1, 1992
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography
H J ten Brink, F Stellaard, C M van den Heuvel, et al.
Clinical Biochemistry
|
February 19, 2002
Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS
M F Silva, J Selhorst, H Overmars, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts
R B Schutgens, R J Wanders, C Jakobs, et al.
European Journal of Pediatrics
|
February 1, 2000
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings
L Van Maldergem, D Tuerlinckx, R J Wanders, et al.
Clinical Neurology and Neurosurgery
|
June 1, 1993
Delay in diagnosis of X-linked adrenoleukodystrophy
B M van Geel, J Assies, E B Haverkort, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
S Kemp, P A Mooyer, P A Bolhuis, et al.
Page
of 50