Literature DB >> 18836888

Chemical individuality: concept and outlook.

W A Gahl1.   

Abstract

Sir Archibald Garrod's concept of chemical individuality introduced a century ago provided the basis for the entire discipline of inborn errors of metabolism. Human disorders are defined by variation in disease-causing mutations, environmental influences, genetic factors other than the primary genetic defect, and evolution itself. Myriad examples support the prescience of Garrod with respect to these issues, each of which has therapeutic implications. Just as Garrod predicted that the future of biochemical genetics would be intertwined with the concept of chemical variability, we might forecast that variation will influence emotions, dreams, and the human thinking process itself.

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Year:  2008        PMID: 18836888     DOI: 10.1007/s10545-008-0995-6

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  35 in total

1.  Estimate of the mutation rate per nucleotide in humans.

Authors:  M W Nachman; S L Crowell
Journal:  Genetics       Date:  2000-09       Impact factor: 4.562

2.  Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.

Authors:  Wendy Westbroek; David Adams; Marjan Huizing; Amy Koshoffer; Heidi Dorward; Bradford Tinloy; Jennifer Parkes; Amanda Helip-Wooley; Robert Kleta; Ekaterina Tsilou; Patrice Duvernay; Kathleen B Digre; Donnell J Creel; James G White; Raymond E Boissy; William A Gahl
Journal:  J Invest Dermatol       Date:  2007-05-31       Impact factor: 8.551

3.  Fool me once, shame on you; fool me twice, shame on oxytocin.

Authors:  Mauricio R Delgado
Journal:  Neuron       Date:  2008-05-22       Impact factor: 17.173

Review 4.  Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.

Authors:  W Introne; R E Boissy; W A Gahl
Journal:  Mol Genet Metab       Date:  1999-10       Impact factor: 4.797

5.  Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.

Authors:  Pim Suwannarat; Chanika Phornphutkul; Isa Bernardini; Maria Turner; William A Gahl
Journal:  Arthritis Rheum       Date:  2004-11

6.  CTNS mutations in an American-based population of cystinosis patients.

Authors:  V Shotelersuk; D Larson; Y Anikster; G McDowell; R Lemons; I Bernardini; J Guo; J Thoene; W A Gahl
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

7.  Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.

Authors:  William A Gahl; Joan Z Balog; Robert Kleta
Journal:  Ann Intern Med       Date:  2007-08-21       Impact factor: 25.391

8.  Genetic determinants of response to warfarin during initial anticoagulation.

Authors:  Ute I Schwarz; Marylyn D Ritchie; Yuki Bradford; Chun Li; Scott M Dudek; Amy Frye-Anderson; Richard B Kim; Dan M Roden; C Michael Stein
Journal:  N Engl J Med       Date:  2008-03-06       Impact factor: 91.245

9.  Phenotype and course of Hutchinson-Gilford progeria syndrome.

Authors:  Melissa A Merideth; Leslie B Gordon; Sarah Clauss; Vandana Sachdev; Ann C M Smith; Monique B Perry; Carmen C Brewer; Christopher Zalewski; H Jeffrey Kim; Beth Solomon; Brian P Brooks; Lynn H Gerber; Maria L Turner; Demetrio L Domingo; Thomas C Hart; Jennifer Graf; James C Reynolds; Andrea Gropman; Jack A Yanovski; Marie Gerhard-Herman; Francis S Collins; Elizabeth G Nabel; Richard O Cannon; William A Gahl; Wendy J Introne
Journal:  N Engl J Med       Date:  2008-02-07       Impact factor: 91.245

10.  Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Authors:  Belinda Galeano; Riko Klootwijk; Irini Manoli; MaoSen Sun; Carla Ciccone; Daniel Darvish; Matthew F Starost; Patricia M Zerfas; Victoria J Hoffmann; Shelley Hoogstraten-Miller; Donna M Krasnewich; William A Gahl; Marjan Huizing
Journal:  J Clin Invest       Date:  2007-06       Impact factor: 14.808

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  1 in total

Review 1.  Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism.

Authors:  Michele Mussap; Marco Zaffanello; Vassilios Fanos
Journal:  Ann Transl Med       Date:  2018-09
  1 in total

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