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J P Colombo

Showing results (111-120 of 159) with videos related to

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Padiatrie Und Padologie|January 1, 1991
[Macrocephaly and dystonic cerebral palsy in a child with type I glutaric aciduria]E Plöchl, E Christensen, J P Colombo, et al.
Neurochemical Research|October 1, 1990
Brain development: 1H magnetic resonance spectroscopy of rat brain extracts compared with chromatographic methodsR Burri, P Bigler, P Straehl, et al.
European Journal of Pediatrics|March 1, 1991
N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxicationG Schubiger, C Bachmann, P Barben, et al.
Padiatrie Und Padologie|January 1, 1982
[Lethal neonatal deficiency of carbamyl phosphate synthetase (author's transl)]E Plöchl, C Bachmann, O Stöllinger, et al.
Human Mutation|August 26, 1998
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1U Finckh, A Kohlschütter, H Schäfer, et al.
Molecular and Chemical Neuropathology|August 1, 1990
Reduced myelinogenesis and recovery in hyperphenylalaninemic rats. Correlation between brain phenylalanine levels, characteristic brain enzymes for myelination, and brain developmentR Burri, C Steffen, S Stieger, et al.
Zeitschrift Fur Kinderheilkunde|January 1, 1970
[Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies]H G Terheggen, A Schwenk, A Lowenthal, et al.
Zeitschrift Fur Kinderheilkunde|January 1, 1970
[Hyperargininemia with arginase deficiency. A new familial metabolic disease. II. Biochemical studies]H G Terheggen, A Schwenk, A Lowenthal, et al.
European Journal of Clinical Pharmacology|January 1, 1997
Free circulating magnesium and loop diuretics in humansT Gozzi, S Dürler, A C Truttman, et al.
Human Genetics|August 1, 1992
Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosomeR Slomski, I Braulke, C Behrend, et al.
Pageof 16

Showing results (111-120 of 159) with videos related to

Sort By:
Pageof 16
Padiatrie Und Padologie|January 1, 1991
[Macrocephaly and dystonic cerebral palsy in a child with type I glutaric aciduria]E Plöchl, E Christensen, J P Colombo, et al.
Neurochemical Research|October 1, 1990
Brain development: 1H magnetic resonance spectroscopy of rat brain extracts compared with chromatographic methodsR Burri, P Bigler, P Straehl, et al.
European Journal of Pediatrics|March 1, 1991
N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxicationG Schubiger, C Bachmann, P Barben, et al.
Padiatrie Und Padologie|January 1, 1982
[Lethal neonatal deficiency of carbamyl phosphate synthetase (author's transl)]E Plöchl, C Bachmann, O Stöllinger, et al.
Human Mutation|August 26, 1998
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1U Finckh, A Kohlschütter, H Schäfer, et al.
Molecular and Chemical Neuropathology|August 1, 1990
Reduced myelinogenesis and recovery in hyperphenylalaninemic rats. Correlation between brain phenylalanine levels, characteristic brain enzymes for myelination, and brain developmentR Burri, C Steffen, S Stieger, et al.
Zeitschrift Fur Kinderheilkunde|January 1, 1970
[Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies]H G Terheggen, A Schwenk, A Lowenthal, et al.
Zeitschrift Fur Kinderheilkunde|January 1, 1970
[Hyperargininemia with arginase deficiency. A new familial metabolic disease. II. Biochemical studies]H G Terheggen, A Schwenk, A Lowenthal, et al.
European Journal of Clinical Pharmacology|January 1, 1997
Free circulating magnesium and loop diuretics in humansT Gozzi, S Dürler, A C Truttman, et al.
Human Genetics|August 1, 1992
Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosomeR Slomski, I Braulke, C Behrend, et al.
Pageof 16