Results 151 to 160 of about 3,279 (202)
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Lancet, The, 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.
Laurent Gouya +2 more
exaly +3 more sources
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.
Laurent Gouya +2 more
exaly +3 more sources
Acute Porphyrias in the USA: Features of 108 Subjects from Porphyrias Consortium [PDF]
American Journal of Medicine, 2014 BACKGROUND: Recent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical, and genetic features of 108 subjects.
Robert J. Desnick +2 more
exaly +2 more sources
The porphyrias: advances in diagnosis and treatment [PDF]
Blood, 2012 The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as "acute hepatic," "hepatic cutaneous," and "erythropoietic cutaneous" diseases.
Robert J. Desnick, Manisha Balwani
exaly +1 more source
The acute hepatic porphyrias: Current status and future challenges
Bailliere's Best Practice and Research in Clinical Gastroenterology, 2010 The porphyrias are predominantly inherited metabolic disorders which result from a specific deficiency of one of the eight enzymes along the pathway of haem biosynthesis Historically they have been classified Into hepatic and erythropoietic forms based ...
Jorge Frank
exaly +2 more sources
Emergency Medicine Clinics of North America, 1989
The importance of recognizing these rare metabolic disorders in the Emergency Department patient is discussed. The pathophysiologic mechanisms behind the neurologic and cutaneous manifestations of these disorders is reviewed; presentation and management of the acute hepatic porphyrias are described; and features of the erythropoietic porphyrias and ...
J R, Bloomer, H L, Bonkovsky
openaire +4 more sources
The importance of recognizing these rare metabolic disorders in the Emergency Department patient is discussed. The pathophysiologic mechanisms behind the neurologic and cutaneous manifestations of these disorders is reviewed; presentation and management of the acute hepatic porphyrias are described; and features of the erythropoietic porphyrias and ...
J R, Bloomer, H L, Bonkovsky
openaire +4 more sources
Current Treatment Options in Gastroenterology, 2000
The porphyrias are a diverse group of metabolic diseases. Major manifestations are episodic neurovisceral attacks of pain or other neurologic features, and/or dermatologic abnormalities. It is essential that a clear diagnosis be established prior to planning management.
, Bonkovsky, , Barnard
openaire +2 more sources
The porphyrias are a diverse group of metabolic diseases. Major manifestations are episodic neurovisceral attacks of pain or other neurologic features, and/or dermatologic abnormalities. It is essential that a clear diagnosis be established prior to planning management.
, Bonkovsky, , Barnard
openaire +2 more sources
Emergency Medicine Clinics of North America, 2005
The porphyrias are a group of disorders involving enzymatic defects in heme synthesis. The porphyrias classically manifest neuro-visceral or photocutaneous symptoms based on which enzyme in the heme metabolic pathway is deficient. Although rare, the porphyrias would most likely be encountered in the emergency department in patients presenting with ...
Teague A, Dombeck, Robert C, Satonik
openaire +2 more sources
The porphyrias are a group of disorders involving enzymatic defects in heme synthesis. The porphyrias classically manifest neuro-visceral or photocutaneous symptoms based on which enzyme in the heme metabolic pathway is deficient. Although rare, the porphyrias would most likely be encountered in the emergency department in patients presenting with ...
Teague A, Dombeck, Robert C, Satonik
openaire +2 more sources
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 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
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
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