相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study
Paolo Ventura et al.
LIVER INTERNATIONAL (2022)
Peritoneal dialysis resulting in discontinuance of recurring attacks of acute intermittent porphyria: A case report
Maria Grostol Ornhoj Ostergaard et al.
SEMINARS IN DIALYSIS (2022)
When awareness makes the difference: diagnosing and treating the acute hepatic porphyrias
Paolo Ventura
INTERNAL AND EMERGENCY MEDICINE (2021)
Acute hepatic porphyrias for the neurologist: current concepts and perspectives
Paulo Victor Sgobbi de Souza et al.
ARQUIVOS DE NEURO-PSIQUIATRIA (2021)
Liver Transplantation for Acute Intermittent Porphyria
Mattias Lissing et al.
LIVER TRANSPLANTATION (2021)
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients
Juan Buendia-Martinez et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias
Ran Kaftory et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2021)
Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations
Paulo Victor Sgobbi de Souza et al.
FRONTIERS IN NEUROSCIENCE (2021)
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran
Jordi To-Figueras et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2021)
Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias
Andrea Ricci et al.
DIAGNOSTICS (2021)
Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
Maria del Carmen Martinez et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
Renal Function Decline With Small Interfering RNA Silencing ALAS1 for Acute Intermittent Porphyria
Helene Lazareth et al.
KIDNEY INTERNATIONAL REPORTS (2021)
Severe homocysteinemia in two givosiran-treated porphyria patients: is free heme deficiency the culprit?
Petro E. Petrides et al.
ANNALS OF HEMATOLOGY (2021)
Hyperhomocysteinemia in patients with acute porphyrias: a possible effect of ALAS1 modulation by siRNAm therapy and its control by vitamin supplementation
Andrea Ricci et al.
EUROPEAN JOURNAL OF INTERNAL MEDICINE (2021)
Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria
Helene Lazareth et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Givosiran for Acute Intermittent Porphyria
Elena Goma-Garces et al.
NEW ENGLAND JOURNAL OF MEDICINE (2020)
Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report
Gustavo de Sousa Arantes Ferreira et al.
AMERICAN JOURNAL OF CASE REPORTS (2020)
Is poor vitamin status a reliable target for treatment of symptomatic patients with hepatic acute porphyrias?
P. Ventura et al.
DIGESTIVE AND LIVER DISEASE (2019)
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies
Makiko Yasuda et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell Injury
Dhiman Maitra et al.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY (2019)
Oxygen and Conformation Dependent Protein Oxidation and Aggregation by Porphyrins in Hepatocytes and Light-Exposed Cells
Dhiman Maitra et al.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY (2019)
Vitamin B6 intake and the risk of incident kidney stones
Pietro Manuel Ferraro et al.
UROLITHIASIS (2018)
Porphyria and kidney diseases
Nicolas Pallet et al.
CLINICAL KIDNEY JOURNAL (2018)
A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease
Dimitri Tchernitchko et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
Porphyria
D. Montgomery Bissell et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Pleiotropic effects of 5-aminolevulinic acid in mouse brain
Jimena Lavandera et al.
BIOCHEMISTRY AND CELL BIOLOGY (2016)
Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria
Urszula Szlendak et al.
ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE (2016)
Ambient Light Promotes Selective Subcellular Proteotoxicity after Endogenous and Exogenous Porphyrinogenic Stress
Dhiman Maitra et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria
Nicolas Pallet et al.
KIDNEY INTERNATIONAL (2015)
δ-Aminolevulinic acid dehydratase single nucleotide polymorphism 2 (ALAD2) and peptide transporter 2*2 haplotype (hPEPT2*2) differently influence neurobehavior in low-level lead exposed children
Christina Sobin et al.
NEUROTOXICOLOGY AND TERATOLOGY (2015)
Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells
Jihane Laafi et al.
BIOCHIMIE (2014)
Lamin aggregation is an early sensor of porphyria-induced liver injury
Amika Singla et al.
JOURNAL OF CELL SCIENCE (2013)
Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up
Mary Felicity Stewart
JOURNAL OF CLINICAL PATHOLOGY (2012)
An update on primary hyperoxaluria
Bernd Hoppe
NATURE REVIEWS NEPHROLOGY (2012)
Renal Failure Affects the Enzymatic Activities of the Three First Steps in Hepatic Heme Biosynthesis in the Acute Intermittent Porphyria Mouse
Carmen Unzu et al.
PLOS ONE (2012)
Acute intermittent porphyria and chronic renal failure
J.T. Marsden et al.
CLINICAL NEPHROLOGY (2011)
Lack of Hemodynamic Effects After Extended Heme Synthesis Inhibition by Succinylacetone in Rats
Stephane L. Bourque et al.
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2010)
Combined liver and kidney transplantation in acute intermittent porphyria
Staffan Wahlin et al.
TRANSPLANT INTERNATIONAL (2010)
Structure of human porphobilinogen deaminase at 2.8 Å: the molecular basis of acute intermittent porphyria
Raj Gill et al.
BIOCHEMICAL JOURNAL (2009)
High-Affinity Interaction of Sartans with H+/Peptide Transporters
Ilka Knuetter et al.
DRUG METABOLISM AND DISPOSITION (2009)
The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine
Paolo Ventura et al.
INTERNAL AND EMERGENCY MEDICINE (2009)
Polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) and peptide transporter 2 (PEPT2) genes in children with low-level lead exposure
Christina Sobin et al.
NEUROTOXICOLOGY (2009)
Acute depletion of heme by succinylacetone alters vascular responses but does not induce hypertension
Jonathan Soong et al.
CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY (2008)
Physiology and pathophysiology of heme: Implications for kidney disease
Michal J. Tracz et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation
PM Shoolingin-Jordan et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2003)
Oxidative damage to ferritin by 5-aminolevulinic acid
MEM Rocha et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2003)
Role of PEPT2 in peptide/mimetic trafficking at the blood-cerebrospinal fluid barrier: Studies in rat choroid plexus epithelial cells in primary culture
C Shu et al.
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2002)
Sirolimus tolerability in a kidney transplant recipient with acute intermittent porphyria
W El Haggan et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2002)
The tolerability of newer immunosuppressive medications in a patient with acute intermittent porphyria
GM Barone et al.
JOURNAL OF CLINICAL PHARMACOLOGY (2001)
Renal symptomatology in patients with acute intermittent porphyria. A population-based study
C Andersson et al.
JOURNAL OF INTERNAL MEDICINE (2000)