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Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
Blood cells, molecules & diseases

The prognostic value of cord blood analysis in erythropoietic protoporphyria: the 'Duesseldorf Cord Blood Study'.
Photodermatology, photoimmunology & photomedicine

Neurological manifestations of acute intermittent porphyria.
Cellular and molecular biology (Noisy-le-Grand, France)

Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
The FEBS journal

[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms].
Ugeskrift for laeger

[Acute intermittent porphyria and chronic transaminase elevation].
Gastroenterología y hepatología

Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?
Journal of neurology

Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.
Molecular medicine (Cambridge, Mass.)

Colon perforation secondary to porphyria.
Annals of the Royal College of Surgeons of England

Erythropoietic protoporphyria.
Orphanet journal of rare diseases

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
The Journal of investigative dermatology

[Inheritance in erythropoietic protoporphyria].
Pathologie-biologie

Liver disease and erythropoietic protoporphyria: a concise review.
World journal of gastroenterology : WJG

Porphyrias at a glance: diagnosis and treatment.
Internal and emergency medicine

[Recurrent flaccid paralysis indicative of acute intermittent porphyria in a child].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie

Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model.
Physiological research / Academia Scientiarum Bohemoslovaca

Porphyrias.
Lancet

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
Journal of inherited metabolic disease

Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.
Blood

Exonic deletions as a cause of erythropoietic protoporphyria.
Annals of clinical biochemistry

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