Results 91 to 100 of about 1,644 (213)

Sensorimotor axonal polyneuropathy without hepatic failure in erythropoietic protoporphyria.

, 2009
Contains fulltext : 81557.pdf (Publisher’s version ) (Closed access)The erythropoietic porphyrias are primarily manifested by skin sensitivity.
Jacobs, B., Engelen, B.G.M. van, Laat, K.F. de, Hengstman, G.J.D.   +3 more
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Nephrologists and porphyrias

, 2002
As usually occurs for rare diseases, the word "PORPHYRIA" often recalls a confused topic with shaded boundaries, presenting "bullous" skin lesions, rare opportunity of diagnosis in clinical practice, unknown pathogenesis, and almost absent therapeutic ...
C. Guida, D. Gabrielli, M.D. Cappellini, C. Canavese   +3 more
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Non frequent porphyrias in the argentinean population [PDF]

, 2006
Las Porfirias son consecuencia de fallas en el metabolismo del Hemo. Se clasifican según el tipo de sintomatología clínica prevalente o el órgano donde se expresa preferencialmente la falla metabólica.
Rossetti, Maria Victoria, Melito, Viviana Alicia, Parera, Victoria Estela, Batlle, Alcira María del C.   +3 more
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A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias

, 2019
Molecular diagnosis of autosomal dominant acute hepatic porphyrias (AHPs) plays an important role in the management of these disorders. To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four ...
Franziska Wegmann (6788597), Marc Beer (5511197), Janine Meienberg (6788600), Xiaoye Schneider-Yin (6788609), Jasmin Barman-Aksözen (6788591), Anna Elisabeth Minder (6788603), Paul Komminoth (5937566), Lukas Suter (6788594), Elisabeth I. Minder (6788606)   +8 more
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Acute hepatic porphyrias - a guide for Hepatologists

The acute hepatic porphyrias (AHPs) are a group of rare, inherited disorders of the heme biosynthesis pathway, usually manifesting with attacks of acute abdominal pain and other neurovisceral symptoms, with or without cutaneous manifestations.
McGuire, Brendan M, Moghe, Akshata, Levy, Cynthia   +2 more
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Acute porphyrias in the Argentinean population: a review. [PDF]

, 2003
The porphyrias are a group of inherited metabolic disorders of heme biosynthesis which result from a partial deficiency in one of its seven specific enzymes, after its first and rate limiting enzyme, delta-aminolevulinic acid synthetase.
Varela, L., De Siervi, A., Batlle, A.M., Parera, V.E., Rossetti, M.V.   +4 more
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Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management

Clinical and Experimental Gastroenterology
Manish Thapar,1 Akash Singh,2 Kevin M Robinson,3 Herbert L Bonkovsky4 1Division of Hepatology, Jefferson- Einstein Medical Center, Philadelphia, PA, USA; 2Department of Medicine, Jefferson- Einstein Medical Center Montgomery, East Norriton, PA, USA ...
Thapar M, Singh A, Robinson KM, Bonkovsky HL   +3 more
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Inter-laboratory survey of erythrocyte free protoporphyrin quantification - announcement of a pilot study [PDF]

, 2008
Stauch, Thomas, Vogeser, Michael, Mueller, Wilhelm   +2 more
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Investigation of an atypical protoporphyric family in South Africa

, 2010
Includes bibliographical references (leaves 171-184).Affected members of the family investigated in this dissertation presented with photosensitivity and raised red cell protoporphyrin concentrations, indicative of protoporphyria.
Haumann, Carel Eduard
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Investigation of the 17-oxosteroids in the hepatic porphyrias [PDF]

, 1973
During the past eighty years, there has been much clinical and experimental evidence presented by a wide variety of investigations confirming the deleterious interplay of endocrine and genetic factors in the natural history of these diseases known as the
Paxton, James William
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