Results 131 to 140 of about 31,642 (216)

Acute hepatic porphyrias. [PDF]

Porto Biomed J
Marques I, Marcos P.
europepmc   +1 more source

Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study

Hetanshi Naik, Michelle Brown, Stephen Meninger, Stephen Lombardelli   +3 more
openalex   +1 more source

Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda

, 1993
James R. Garey, Kerry F. Franklin, David A. Brown, Lyle M. Harrison, Kathy M. Metcalf, James P. Kushner   +5 more
openalex   +1 more source

When awareness makes the difference: diagnosing and treating the acute hepatic porphyrias

, 2020
Paolo Ventura
openalex   +2 more sources

Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations. [PDF]

Orphanet J Rare Dis
Schmolly K, Rudrapatna V, Beaven S.
europepmc   +1 more source

From chemistry to genomics: A concise history of the porphyrias [PDF]

Michael N. Badminton, Karl E. Anderson, Jean‐Charles Deybach, Pauline Harper, Sverre Sandberg, George H. Elder   +5 more
openalex   +1 more source

Long-term management and treatment of acute intermittent porphyria with recurring attacks using pharmacological prophylaxis

, 2023
Hung‐Chou Kuo, Long‐Sun Ro, Chia‐Ni Lin, Huiyu Chen   +3 more
openalex   +1 more source

May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria. Comparison with the situation in Slavic population

, 2006
Matouš Hrdinka, Hervé Puy, Pavel Martásek   +2 more
openalex   +1 more source

The Porphyrias [PDF]

, 1968
I.A. Magnus
openalex   +1 more source

Porphyrias: Pathophysiology and clinical management recommendations for hepatologists. [PDF]

Hepatol Commun
Ricci A, Corradini E, Buzzetti E, Pietrangelo A, Pietrangelo A, Ventura P, Modena Centre of Rare Diseases - Porphyria Working Group.   +6 more
europepmc   +1 more source