ISBN 978-0-7216-2921-6. "hepatoerythropoietic porphyria" at Dorland's Medical Dictionary Hepatoerythropoietic porphyria at NLM ... Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code ... In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more ... February 2007). "Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)". ...
... of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria ... 1991). "Identification of a new mutation responsible for hepatoerythropoietic porphyria". Eur. J. Clin. Invest. 21 (2): 225-9. ... 1994). "Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria". J. Invest. ... 1998). "A zebrafish model for hepatoerythropoietic porphyria". Nat. Genet. 20 (3): 239-43. doi:10.1038/3041. PMID 9806541. ...
Hepatoerythropoietic porphyria List of cutaneous conditions Miyata T, Oda O, Inagi R, et al. (September 1993). "beta 2- ...
HMBS Porphyria, congenital erythropoietic; 263700; UROS Porphyria, hepatoerythropoietic; 176100; UROD Prader-Willi syndrome; ... SART3 Porphyria cutanea tarda; 176100; UROD Porphyria variegata; 176200; PPOX Porphyria, acute hepatic; 612740; ALAD Porphyria ... acute intermittent; 176000; HMBS Porphyria, acute intermittent, nonerythroid variant; 176000; ...
The most severe disease is seen in CEP and a rare variant of PCT known as hepatoerythropoietic porphyria (HEP); symptoms ... Variegate porphyria (also porphyria variegata or mixed porphyria), which results from a partial deficiency in PROTO oxidase, ... "About Porphyria: Safety database". Porphyria Drug Safety Database. American Porphyria Foundation. Archived from the original on ... The non-acute porphyrias are X-linked dominant protoporphyria (XLDPP), congenital erythropoietic porphyria (CEP), porphyria ...
Hepatoerythropoietic porphyria has been described as a homozygous form of porphyria cutanea tarda, although it can also be ... Porphyria cutanea tarda is the most common subtype of porphyria. The disease is named because it is a porphyria that often ... "Porphyria Cutanea Tarda (PCT)". 2020-01-12. "Porphyrin Tests". 7 May 2020. Jackson, A. H.; Ferramola, A. M.; Sancovich, H. A.; ... Porphyria Cutanea Tarda at eMedicine Held, H. (2009). "Effect of Alcohol on the Heme and Porphyrin Synthesis Interaction with ...
... intermittent porphyria Porphyria cutanea tarda and Hepatoerythropoietic porphyria Hereditary coproporphyria Variegate porphyria ... Hepatic porphyrias is a form of porphyria in which toxic porphyrin molecules build up in the liver. Hepatic porphyrias can ... Porphyrias,+Hepatic at the U.S. National Library of Medicine Medical Subject Headings (MeSH) www.drugs-porphyria.com www. ... Erythropoietic porphyria Givosiran "OMIM - PORPHYRIA, CONGENITAL ERYTHROPOIETIC". Retrieved 2008-12-04. ...
Hemodialysis-associated amyloidosis Hepatoerythropoietic porphyria Hereditary coproporphyria Hereditary gelsolin amyloidosis ... mixed hepatic porphyria, mixed porphyria, South African genetic porphyria, South African porphyria) Verruciform xanthoma Waxy ... Alkaptonuria Aminolevulinic acid dehydratase deficiency porphyria (Doss porphyria, plumboporphyria) B-mannosidase deficiency ... Porphyria cutanea tarda Primary cutaneous amyloidosis Primary systemic amyloidosis Prolidase deficiency Pseudoporphyria ( ...
... or hep may refer to: Hepatitis, a medical condition of the liver Hepatoerythropoietic porphyria, a blood disease High- ...
... porphyria cutanea tarda MeSH C06.552.830.437 - porphyria, hepatoerythropoietic MeSH C06.552.830.625 - porphyria, variegate MeSH ...
... porphyria cutanea tarda MeSH C18.452.872.617.400.437 - porphyria, hepatoerythropoietic MeSH C18.452.872.617.400.625 - porphyria ... porphyria cutanea tarda MeSH C18.452.648.735.437 - porphyria, hepatoerythropoietic MeSH C18.452.648.735.625 - porphyria, ... porphyrias MeSH C18.452.872.617.250 - porphyria, erythropoietic MeSH C18.452.872.617.400 - porphyrias, hepatic MeSH C18.452. ... porphyria, erythropoietic MeSH C18.452.648.735 - porphyrias, hepatic MeSH C18.452.648.735.074 - coproporphyria, hereditary MeSH ...
... porphyria cutanea tarda MeSH C16.320.565.735.437 - porphyria, hepatoerythropoietic MeSH C16.320.565.735.625 - porphyria, ... porphyria cutanea tarda MeSH C16.320.850.742.437 - porphyria, hepatoerythropoietic MeSH C16.320.850.742.625 - porphyria, ... porphyria, erythropoietic MeSH C16.320.565.735 - porphyrias, hepatic MeSH C16.320.565.735.074 - coproporphyria, hereditary MeSH ... porphyria, erythropoietic MeSH C16.320.850.742 - porphyrias, hepatic MeSH C16.320.850.742.074 - coproporphyria, hereditary MeSH ...
... porphyria cutanea tarda MeSH C17.800.849.617.400.437 - porphyria, hepatoerythropoietic MeSH C17.800.849.617.400.625 - porphyria ... porphyria cutanea tarda MeSH C17.800.827.742.437 - porphyria, hepatoerythropoietic MeSH C17.800.827.742.625 - porphyria, ... porphyrias MeSH C17.800.849.617.250 - porphyria, erythropoietic MeSH C17.800.849.617.400 - porphyrias, hepatic MeSH C17.800. ... porphyria, erythropoietic MeSH C17.800.827.742 - porphyrias, hepatic MeSH C17.800.827.742.074 - coproporphyria, hereditary MeSH ...
... autosomal recessive deafness 36 Hemochromatosis Hepatoerythropoietic porphyria Homocystinuria Hutchinson Gilford progeria ... Muckle-Wells syndrome Nonsyndromic deafness Oligodendroglioma Parkinson disease Pheochromocytoma porphyria porphyria cutanea ... the gene for porphyria cutanea tarda) USP1 (1p31) USP48: Ubiquitin carboxyl-terminal hydrolase 48 VAV3 (1p13) VPS13D: Vacuolar ... syndrome TAR syndrome trimethylaminuria Usher syndrome Usher syndrome type II Van der Woude syndrome Variegate porphyria G- ...