Results 171 to 180 of about 13,719 (226)

ALAD Porphyria

Seminars in Liver Disease, 1998
ALAD porphyria is an autosomal recessive disorder resulting from a homozygous aminolevulinic acid dehydratase (ALAD) deficiency. Because of an almost complete lack of ALAD activity, patients excrete a large amount of ALA, but not PBG, into urine. The symptoms in this disease are similar to those seen in AIP, but ALAD porphyria can be differentiated ...
Shigeru Sassa
exaly   +3 more sources

The porphyrias

Disease-a-Month, 1989
The porphyrias are metabolic disorders in which there are excessive accumulation and excretion of porphyrins and porphyrin precursors. Each of the porphyrias has a specific enzyme defect in the pathway of heme biosynthesis that explains the pattern of biochemical abnormalities that occur.
J R, Bloomer, H L, Bonkovsky
openaire   +4 more sources

Porphyrias

The Lancet, 2010
Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both. Every porphyria is caused by abnormal function of a separate enzymatic step, resulting in a specific accumulation of haem precursors.
Hervé, Puy   +2 more
openaire   +2 more sources

The Porphyrias

Dermatologic Clinics, 1993
The vesiculobullous porphyrias are a group of blistering diseases with systemic as well as cutaneous manifestations ranging from mild to disabling, secondary to endogenous photosensitizing porphyrins. The characteristic patterns of porphyrin accumulation in erythrocytes, plasma, urine, and feces are invaluable for differentiating the vesiculobullous ...
T, Meola, H W, Lim
openaire   +2 more sources

The porphyrias

Blood Reviews, 1990
The porphyrias are a group of metabolic disorders arising from defects in the haem biosynthetic pathway. Most forms are inherited as Mendelian autosomal dominant characters, but some are recessive and others acquired. There is a linked group of diseases, which are not porphyrias, but have in common alterations of haem biosynthesis.
M R, Moore   +3 more
openaire   +2 more sources

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