Literature DB >> 8254102

Molecular genetics of disorders of haem biosynthesis.

G H Elder1.   

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Year:  1993        PMID： 8254102      PMCID： PMC501676          DOI： 10.1136/jcp.46.11.977

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


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  55 in total

1.  Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.

Authors:  P H Roméo; N Raich; A Dubart; D Beaupain; M Pryor; J Kushner; M Cohen-Solal; M Goossens
Journal:  J Biol Chem       Date:  1986-07-25       Impact factor: 5.157

2.  New dual form of porphyria.

Authors:  M Doss
Journal:  Lancet       Date:  1988-04-23       Impact factor: 79.321

3.  Assignment of the human coproporphyrinogen oxidase to chromosome 9.

Authors:  B Grandchamp; D Weil; Y Nordmann; N Van Cong; H de Verneuil; C Foubert; M S Gross
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

4.  Structure of the gene for human uroporphyrinogen decarboxylase.

Authors:  M Romana; A Dubart; D Beaupain; C Chabret; M Goossens; P H Romeo
Journal:  Nucleic Acids Res       Date:  1987-09-25       Impact factor: 16.971

5.  Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

Authors:  B Grandchamp; H De Verneuil; C Beaumont; S Chretien; O Walter; Y Nordmann
Journal:  Eur J Biochem       Date:  1987-01-02

6.  DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria.

Authors:  D H Llewellyn; G H Elder; N A Kalsheker; O W Marsh; P R Harrison; B Grandchamp; C Picat; Y Nordmann; P H Romeo; M Goossens
Journal:  Lancet       Date:  1987-09-26       Impact factor: 79.321

7.  Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

Authors:  S Chretien; A Dubart; D Beaupain; N Raich; B Grandchamp; J Rosa; M Goossens; P H Romeo
Journal:  Proc Natl Acad Sci U S A       Date:  1988-01       Impact factor: 11.205

8.  Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone.

Authors:  J G Wetmur; D F Bishop; C Cantelmo; R J Desnick
Journal:  Proc Natl Acad Sci U S A       Date:  1986-10       Impact factor: 11.205

9.  Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.

Authors:  H de Verneuil; B Grandchamp; C Beaumont; C Picat; Y Nordmann
Journal:  Science       Date:  1986-11-07       Impact factor: 47.728

10.  Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase.

Authors:  N Raich; P H Romeo; A Dubart; D Beaupain; M Cohen-Solal; M Goossens
Journal:  Nucleic Acids Res       Date:  1986-08-11       Impact factor: 16.971
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  4 in total

1.  A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria.

Authors:  J Vázquez-Prado; F J Sánchez-Anzaldo; G J Ruiz-Argüelles; E Marín-López; E Lobato-Mendizábal
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 2.  The little imitator--porphyria: a neuropsychiatric disorder.

Authors:  H L Crimlisk
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-04       Impact factor: 10.154

Review 3.  Porphobilinogen deaminase gene structure and molecular defects.

Authors:  J C Deybach; H Puy
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

4.  The potential role of cell penetrating peptides in the intracellular delivery of proteins for therapy of erythroid related disorders.

Authors:  Lefkothea C Papadopoulou; Asterios S Tsiftsoglou
Journal:  Pharmaceuticals (Basel)       Date:  2013-01-07
  4 in total

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