Results 11 to 20 of about 221 (156)
Porfiria eritropoyética congénita
Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2005 Se presenta el caso de una niña de 3 años de edad, quien seis meses después del nacimiento desarrolla lesiones cicatriciales en la cara y áreas fotoexpuestas asociadas con hipertricosis, eritrodoncia y orina oscura.
Milton Mejía Montoya +1 more
doaj +1 more source
A patogênese das porfirias agudas
Clinical and Biomedical Research, 2022 As porfirias agudas são causadas por uma deficiência na via de biossíntese do heme, que provoca ataques caracterizados por disfunções neuroviscerais (neuropatia autonômica, neuropatia periférica e encefalopatia) e produção excessiva dos precursores ...
Carlos André Prauchner +1 more
doaj +1 more source
Timing of surgery following SARS-CoV-2 infection: an international prospective cohort study. [PDF]
Anaesthesia, 2021 Summary Peri‐operative SARS‐CoV‐2 infection increases postoperative mortality. The aim of this study was to determine the optimal duration of planned delay before surgery in patients who have had SARS‐CoV‐2 infection. This international, multicentre, prospective cohort study included patients undergoing elective or emergency surgery during October 2020.
COVIDSurg Collaborative and GlobalSurg Collaborative.
europepmc +2 more sources
Molecular Genetics &Genomic Medicine, Volume 9, Issue 5, May 2021., 2021 In this paper we review same results obtained from the AIP and VP families studied at biochemical and molecular level at the CIPYP in Argentina.Taking into account the relationship between the porphyric attack and oxidative stress, we also decided to study oxidative stress parameters and homocysteine levels in AHP patients and controls, to identify a ...
María del Carmen Martinez +5 more
wiley +1 more source
Revista médica de Chile, 2008 Information about 60 pregnancies in 17 women aged 18 to 43 years wasgathered. Among women with acute porphyria, one with coproporphyria had four pregnancies,nine with variegate porphyria had a total of 34 pregnancies and two with acute intermittentporphyria had six pregnancies. Five women with porphyria cutanea had a total of 16pregnancies.
Wolff Fernández, Carlos +1 more
openaire +2 more sources
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
Case Reports in Genetics, Volume 2020, Issue 1, 2020., 2020 Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is the most common porphyria and is due to deficient activity of uroporphyrinogen decarboxylase (UROD). Acute
G. N. Cerbino +7 more
wiley +1 more source
Anestesi pada Pediatrik dengan Kelainan Porfiria Herediter
JAI (Jurnal Anestesiologi Indonesia), 2012 Pasien dengan porfiria terjadi perubahan biologi yang penting diketahui berkaitan dengan penggunaan oksigen, transportasi, bentuk dan penyimpanan. Jalur sintetis yang terlibat dalam produksi porfirin kompleks dan melibatkan banyak enzim. Defek pada salah
Agus Rukmana, Johan Arifin
doaj +1 more source
Porfiria: Presentación de un caso y revisión de la literatura
Repertorio de Medicina y Cirugía, 2007 Se trata de una mujer joven que consultó por dolor abdominal intenso de tres horas de evolución acompañado de náuseas y vómito que no mejoró con analgésicos ni antiespasmódicos, por lo cual acudió al médico que le formuló aines, antiespasmódicos y ...
José Ignacio Hernández Cruz
doaj +1 more source
Porfirias agudas: aspectos laboratoriais [PDF]
Revista Brasileira de Ciência do Solo, 2002 As porfirias sao causadas por deficiencia parcial de uma das enzimas da via de biossintese do heme, caracterizando-se por disfuncoes neuroviscerais bastante semelhantes. As porfirias agudas sao decorrentes da deficiencia das enzimas delta-aminolevulinato desidratase (ALAD), porfobilinogenio desaminase, coproporfirinogenio oxidase ou protoporfirinogenio
Prauchner, Carlos André +1 more
openaire +2 more sources
Acta Neurológica Colombiana, 2023 Las porfirias son un grupo heterogéneo de trastornos del metabolismo en el cual hay una deficiencia enzimática específica necesaria en la biosíntesis del grupo hemo.
Alejandro Enríquez-Marulanda +3 more
doaj +2 more sources