Results 61 to 70 of about 5,389 (175)

Rat Porphobilinogen Deaminase Gene: A Pseudogene-Free Internal Standard for Laser-Assisted Cell Picking

BioTechniques, 1999
Analysis of gene expression and its transcriptional regulation requires a reliable access to target mRNA. However, mRNA extractions from homogenized tissue are limited because only average data are obtained, and cell-specific expression may not be ...
L. Fink, U. Stahl, L. Ermert, W. Kummer, W. Seeger, R.M. Bohle   +5 more
doaj   +1 more source

La porfiria aguda intermitente y el cirujano: un reto diagnóstico Reporte de un caso y revisión de la literatura Acute intermittent porphyria and the surgeon: a diagnostic challenge. Case report and literature review

Revista Colombiana de Cirugía, 2011
La porfiria intermitente aguda es conocida, en el ámbito de la cirugía, como una de las causas de abdomen agudo no quirúrgico. No obstante, lo que no se menciona con frecuencia es la posibilidad de que cualquier procedimiento quirúrgico precipite un ...
Lilian Torregrosa, Juan Carlos Ayala, Sergio Cervera, Carlos Andrés Villa   +3 more
doaj  

Hepatocyte Transplantation Ameliorates the Metabolic Abnormality in a Mouse Model of Acute Intermittent Porphyria

Cell Transplantation, 2014
Acute intermittent porphyria (AIP) is an autosomal dominant disorder characterized by insufficient porphobilinogen deaminase (PBGD) activity. When hepatic heme synthesis is induced, porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate, which ...
Zhaohui Yin, Staffan Wahlin M.D., Ph.D., Ewa C. S. Ellis, Pauline Harper, Bo-Göran Ericzon, Greg Nowak   +5 more
doaj   +1 more source

Acute Intermittent Porphyria: A Report of 3 Cases with Neuropathy

Case Reports in Neurology, 2019
The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP).
Mohammed Alqwaifly, Vera Bril, Dubravka Dodig   +2 more
doaj   +1 more source

Inhibition of wheat germ porphobilinogen deaminase activity by butanedione [PDF]

, 1979
Stuart E. Pollack, C.S. Russell
openalex   +1 more source

A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort

Journal of the Formosan Medical Association
Background/purpose: Acute hepatic porphyrias (AHP) are rare genetic disorders associated with acute neurovisceral attacks and chronic symptoms.
Ming-Jen Lee, Hung-Chou Kuo, Lin-Na Chou, Marianne T. Sweetser, Jiaan-Der Wang   +4 more
doaj   +1 more source

Biochemical Characterization of Porphobilinogen Deaminase-Deficient Mice During Phenobarbital Induction of Heme Synthesis and the Effect of Enzyme Replacement [PDF]

, 2003
Annika Johansson, Christer Möller, J. Fogh, Pauline Harper   +3 more
openalex   +1 more source

Differential diagnosis of acute abdominal pain – acute intermittent porphyria [PDF]

Medicinski Glasnik, 2011
Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme.
Mislav Klobučić, Duška Šklebar, Renata Ivanac, Dragica Vrabec Matković, Anita Jug-Klobučić, Ivan Šklebar   +5 more
doaj  

Abstracts

Cancer Science, Volume 117, Issue S1, Page 1-2148, January 2026.
wiley   +1 more source

Purification of porphobilinogen deaminase from Euglena gracilis and studies of its kinetics [PDF]

, 1981
D. Clive Williams, Grant Morgan, Edward McDonald, Alan R. Battersby   +3 more
openalex   +1 more source