Results 121 to 130 of about 1,705 (212)

Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband [PDF]

, 1998
Jorge Frank, John A. McGrath, HaMut Lam, Robert M. Graham, J.L.M. Hawk, Angela M. Christiano   +5 more
openalex   +1 more source

Homozygous Variegate Porphyria: 20 y Follow-Up and Characterization of Molecular Defect [PDF]

, 2001
Raili Kauppinen, Mikael von, und zu Fraunberg, Helena Ahola, Pertti Mustajoki, Kaisa Timonen, E Kalevi A Laitinen, R Tenhunen, Shigeru Taketani   +8 more
openalex   +1 more source

An unusual case of variegate porphyria with nerve enlargement, conduction block and idiopathic intracranial hypertension

Michelle Abdo Paiva, André Macedo Serafim da Silva, Rodrigo de Holanda Mendonça, Ana Lucila Moreira, Nícolas Ruan dos Santos Cavalcante, José Pedro Soares Baima, Carlos Otto Heise, Edmar Zanoteli   +7 more
openalex   +1 more source

04183 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes [PDF]

C. J. P. Smith, Li F. Chan, Lou A Metherell   +2 more
openalex   +1 more source

Homozygous Variegate Porphyria: Vitamin E as a Possible Therapeutic Approach [PDF]

, 1987
Samuel Ayres, Gillian Murphy
openalex   +1 more source

Quantitative structural insight into human variegate porphyria disease. [PDF]

J Biol Chem, 2013
Wang B, Wen X, Qin X, Wang Z, Tan Y, Shen Y, Xi Z.   +6 more
europepmc   +1 more source

Anesthetic management of a patient with variegate porphyria

, 1997
Yuko Minoda, Kowa Yoshimine, Mikiko Higashi, Eturo Nagata, Koji Ikeda, Nozomu Yoshimura   +5 more
openalex   +1 more source

Variegate porphyria complicated by systemic AA amyloidosis: a case report. [PDF]

Amyloid, 2013
Tsuchiya Y, Hoshino J, Suwabe T, Sumida K, Hiramatsu R, Mise K, Hasegawa E, Yamanouchi M, Hayami N, Sawa N, Arizono K, Hara S, Takaichi K, Fujii T, Ubara Y.   +14 more
europepmc   +1 more source

Recovery from a variegate porphyria by a liver transplantation [PDF]

, 2004
Nathalie Stojeba, Carole Meyer, C. Jeanpierre, F Perrot, Christine Hirth, Thierry Pottecher, Jean‐Charles Deybach   +6 more
openalex   +1 more source