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Journal of Inherited Metabolic Disease
|
May 11, 1999
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy
E Touma, T Suormala, E R Baumgartner, et al.
Neuropediatrics
|
August 1, 1986
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease
G Mitchell, H Ogier, A Munnich, et al.
Annales De Medecine Interne
|
January 1, 1982
[Double deficiency of sulfite and xanthine oxidase causing encephalopathy and due to a hereditary anomaly in the metabolism of molybdenum]
H Ogier, J M Saudubray, C Charpentier, et al.
American Journal of Human Genetics
|
August 1, 1993
Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean
C Morin, G Mitchell, J Larochelle, et al.
Journal De Genetique Humaine
|
December 1, 1989
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset]
J M Saudubray, S Lyonnet, A Lombes, et al.
Lancet (London, England)
|
August 1, 1981
Defective biotin absorption in multiple carboxylase deficiency
A Munnich, J M Saudubray, G Carré, et al.
Archives Francaises De Pediatrie
|
August 1, 1985
[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form]
J P Bonnefont, H Ogier, G Mitchell, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2005
Methylmalonic and propionic acidaemias: management and outcome
H Ogier de Baulny, J F Benoist, O Rigal, et al.
The Journal of Pediatrics
|
June 1, 1984
Congenital anomalies in glutaric aciduria type 2
G Mitchell, J M Saudubray, M C Gubler, et al.
Neurology
|
August 25, 2004
Progression despite replacement of a myopathic form of coenzyme Q10 defect
K Auré, J F Benoist, H Ogier de Baulny, et al.
Page
of 13
Search research articles
Search
Showing results (51-60 of 127) with videos related to
Sort By:
Page
of 13
Journal of Inherited Metabolic Disease
|
May 11, 1999
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy
E Touma, T Suormala, E R Baumgartner, et al.
Neuropediatrics
|
August 1, 1986
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease
G Mitchell, H Ogier, A Munnich, et al.
Annales De Medecine Interne
|
January 1, 1982
[Double deficiency of sulfite and xanthine oxidase causing encephalopathy and due to a hereditary anomaly in the metabolism of molybdenum]
H Ogier, J M Saudubray, C Charpentier, et al.
American Journal of Human Genetics
|
August 1, 1993
Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean
C Morin, G Mitchell, J Larochelle, et al.
Journal De Genetique Humaine
|
December 1, 1989
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset]
J M Saudubray, S Lyonnet, A Lombes, et al.
Lancet (London, England)
|
August 1, 1981
Defective biotin absorption in multiple carboxylase deficiency
A Munnich, J M Saudubray, G Carré, et al.
Archives Francaises De Pediatrie
|
August 1, 1985
[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form]
J P Bonnefont, H Ogier, G Mitchell, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2005
Methylmalonic and propionic acidaemias: management and outcome
H Ogier de Baulny, J F Benoist, O Rigal, et al.
The Journal of Pediatrics
|
June 1, 1984
Congenital anomalies in glutaric aciduria type 2
G Mitchell, J M Saudubray, M C Gubler, et al.
Neurology
|
August 25, 2004
Progression despite replacement of a myopathic form of coenzyme Q10 defect
K Auré, J F Benoist, H Ogier de Baulny, et al.
Page
of 13