Results 161 to 170 of about 8,404 (212)
Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations. [PDF]
Orphanet J Rare DisSchmolly K, Rudrapatna V, Beaven S.
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Aminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias. [PDF]
Biosci RepSchedlbauer A +9 more
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From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap. [PDF]
Ann Med Surg (Lond)Ozukum ST +4 more
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Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]
JIMD RepClark J +6 more
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When Recurrent Pancreatitis Is Not Pancreatitis: Cyclic Vomiting Syndrome Masquerading as Acute Pancreatitis in a Young Adult. [PDF]
CureusOttu Para NK +2 more
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Seminars in Liver Disease, 1998
Acute intermittent porphyria (AIP) is transmitted as an autosomal dominant disorder with incomplete penetrance. Recent population studies suggest that the prevalence of asymptomatic heterozygotes for a mutant AIP gene may be in the range of 1 in 2,000. Clinical manifestations include abdominal pain and neurological dysfunctions.
Bernard Grandchamp
exaly +3 more sources
Acute intermittent porphyria (AIP) is transmitted as an autosomal dominant disorder with incomplete penetrance. Recent population studies suggest that the prevalence of asymptomatic heterozygotes for a mutant AIP gene may be in the range of 1 in 2,000. Clinical manifestations include abdominal pain and neurological dysfunctions.
Bernard Grandchamp
exaly +3 more sources
The Lancet, 1997
Public attention has been drawn to the acute porphyrias in the past few years by speculation that they affected the character of George III and the creative genius of Vincent van Gogh. During the same period, there have been important advances in the understanding of the molecular basis of the acute porphyrias and in diagnosis and the clinical ...
G H, Elder, R J, Hift, P N, Meissner
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Public attention has been drawn to the acute porphyrias in the past few years by speculation that they affected the character of George III and the creative genius of Vincent van Gogh. During the same period, there have been important advances in the understanding of the molecular basis of the acute porphyrias and in diagnosis and the clinical ...
G H, Elder, R J, Hift, P N, Meissner
openaire +2 more sources
The Journal of Emergency Medicine, 2015
Porphyrias are a group of eight metabolic disorders characterized by defects in heme biosynthesis. Porphyrias are classified into two major categories: 1) the acute or inducible porphyrias and 2) the chronic cutaneous porphyrias. The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria ...
Siddesh, Besur +2 more
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Porphyrias are a group of eight metabolic disorders characterized by defects in heme biosynthesis. Porphyrias are classified into two major categories: 1) the acute or inducible porphyrias and 2) the chronic cutaneous porphyrias. The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria ...
Siddesh, Besur +2 more
openaire +2 more sources