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C R Scriver

Explore the profile of C R Scriver including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 370
Citations 3228
Followers 0
Related Specialties
General Medicine
Genetics
Pediatrics
Top 10 Co-Authors
C L Clow
H S Tenenhouse
F Mohyuddin
O A Mamer
T M Reade
C Laberge
F H Glorieux
R Rozen
P J Waters
D E Cole
Published In
Pediatrics
Am J Hum Genet
N Engl J Med
Pediatr Res
J Inherit Metab Dis
Affiliations
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Recent Articles
11.
Does hereditary metabolic disease modulate senescence and ageing?
Scriver C
J Inherit Metab Dis . 2002 Jul; 25(3):235-51. PMID: 12137233
Hereditary metabolic diseases in the context of evolutionary biology elicit interesting questions about ageing and senescence: Will persons successfully treated for inborn errors of metabolism, age and die prematurely because...
12.
Human genetics: lessons from Quebec populations
Scriver C
Annu Rev Genomics Hum Genet . 2001 Nov; 2:69-101. PMID: 11701644
The population of Quebec, Canada (7.3 million) contains approximately 6 million French Canadians; they are the descendants of approximately 8500 permanent French settlers who colonized Nouvelle France between 1608 and...
13.
Not preventing--yet, just avoiding Tay-Sachs disease
Scriver C
Adv Genet . 2001 Oct; 44:267-74. PMID: 11596989
No abstract available.
14.
Henry Friesen Award Lecture. Work, the clinician-scientist and human biochemical genetics
Scriver C
Clin Invest Med . 2001 Sep; 24(4):179-95. PMID: 11558852
The pursuit of human biochemical genetics has allowed us to understand better how the person with the (genetic) disease differs from the disease the person has and to develop the...
15.
Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia
Waters P, Scriver C, Parniak M
Mol Genet Metab . 2001 Jul; 73(3):230-8. PMID: 11461190
Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase gene (PAH), while mutations in genes encoding the two enzymes (dihydropteridine reductase, DHPR, and pterin-4-alpha-carbinolamine dehydratase, PCD) required for recycling...
16.
Garrod's foresight; our hindsight
Scriver C
J Inherit Metab Dis . 2001 Jun; 24(2):93-116. PMID: 11405353
Archibald Edward Garrod introduced a paradigm, new for its day, in medicine: Biochemistry is dynamic and different from the static nature of organic chemistry. It led him to think about...
17.
Mutation analysis in metabolic (and other genetic) disease: how soon, how useful
Scriver C
Eur J Pediatr . 2001 Feb; 159 Suppl 3:S243-5. PMID: 11216909
No abstract available.
18.
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients
Fukao T, Scriver C, Kondo N
Mol Genet Metab . 2001 Feb; 72(2):109-14. PMID: 11161836
Mitochondrial acetoacetyl-CoA thiolase (T2 enzyme) deficiency (MIM 203750) is an autosomal recessive disorder of isoleucine and ketone-body metabolism. We determined the molecular basis of T2 enzyme deficiency in 26 patients...
19.
Science's neglected legacy
Maurer S, Firestone R, Scriver C
Nature . 2000 May; 405(6783):117-20. PMID: 10821250
No abstract available.
20.
Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia
Sarkissian C, Scriver C, Mamer O
Anal Biochem . 2000 May; 280(2):242-9. PMID: 10790306
Phenylketonuria (PKU) (OMIM 261600) is the first Mendelian disease to have an identified chemical cause of impaired cognitive development. The disease is accompanied by hyperphenylalaninemia (HPA) and elevated levels of...