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Comment on Mahmood, M.N. Direct Immunofluorescence of Skin and Oral Mucosa: Guidelines for Selecting the Optimum Biopsy Site. <i>Dermatopathology</i> 2024, <i>11</i>, 52-61. [PDF]
Demiral Ş, Özcan Y, Gamsızkan M.
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Animal Models of Porphyria with Hepatic Involvement. [PDF]
Balogun O, Nejak-Bowen K.
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Sunscreen and Photoprotection Habits for Patients With Porphyria and Non-Porphyric Photosensitivity Conditions. [PDF]
Bajek D +4 more
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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
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
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
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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
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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
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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
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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
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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
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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
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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

