Results 141 to 150 of about 5,389 (175)

Demystification of Chester porphyria: A nonsense mutation in the porphobilinogen deaminase gene

, 2006
Pamela Poblete‐Gutiérrez, T. Wiederholt, Amalia Martı́nez-Mir, HF Merk, J. M. Connor, AM Christiano, Jorge Frank   +6 more
openalex   +1 more source

Axonal Neuropathy in Hepatic Porphyria Should Not be Confused With Guillain-Barre Syndrome. [PDF]

Neurohospitalist
Finsterer J.
europepmc   +1 more source

LC-MS Metabolomics Raw Data for Metabolic Engineering of Corynebacterium glutamicum for Enhanced 5-Aminolevulinic Acid Production via Precise Porphobilinogen synthase Activity Modulation

hongyan Zhang
openalex   +1 more source

A New Generation of Porphyrias: A Case of Acute Intermittent Porphyria. [PDF]

Cureus
Sousa M, Ribeiro F, Pais T, Romão S, Oliveira A.   +4 more
europepmc   +1 more source

Psychiatric Presentation of Hereditary Coproporphyria with Coproporphyrinogen Oxidase Gene Mutation c.734 C>T: A Case Report. [PDF]

Noro Psikiyatr Ars
Şenel M, Çakmak IB, Gürkan Ş, Korkmaz ŞA, Çatlı B, Ceylan AC, Ürey GBC, Kasapkara ÇS, Göka E.   +8 more
europepmc   +1 more source

Unveiling a hidden hazard: lead poisoning from hobbyist activities and its long-term impact. [PDF]

Ann Occup Environ Med
Pucci C, Tomassini L, dell'Omo M, Deini A, Lillacci D, Gambelunghe C, Zampolini M, Murgia N, Gambelunghe A.   +8 more
europepmc   +1 more source

Structural and mechanistic studies on E. coli porphobilinogen deaminase and mutant variants

, 1996
Sarah J. Awan
openalex   +1 more source

Advances in multi-omics and therapeutic studies of Henoch-Schönlein purpura. [PDF]

Ital J Pediatr
Xu M, Wei Z, Wang L, Liang W, Gao F, Sang S, Zhang R.   +6 more
europepmc   +1 more source

Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report. [PDF]

Am J Case Rep
Conroy PB, Davel S, Malherbe JAJ, Carrivick SJ, Briggs EN.   +4 more
europepmc   +1 more source