| scholarly article | Q13442814 |
| P356 | DOI | 10.1093/HMG/DDV222 |
| P698 | PubMed publication ID | 26071363 |
| P50 | author | Hugo Lenglet | Q83646052 |
| Naïg Gueguen | Q85257270 | ||
| Laurent Gouya | Q40217754 | ||
| Valérie Desquiret-Dumas | Q47870783 | ||
| Zoubida Karim | Q56425654 | ||
| Hervé Puy | Q56491818 | ||
| Pascal Reynier | Q56541742 | ||
| P2093 | author name string | Jean-Charles Deybach | |
| Gilles Simard | |||
| Yves Malthièry | |||
| Caroline Schmitt | |||
| Chadi Homedan | |||
| Jihane Laafi | |||
| P2860 | cites work | Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria | Q57083724 |
| Diagnosis and management of porphyria | Q24527280 | ||
| RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice | Q33694417 | ||
| The little imitator--porphyria: a neuropsychiatric disorder | Q33735657 | ||
| Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria | Q33849564 | ||
| Recommendations for the diagnosis and treatment of the acute porphyrias | Q33985744 | ||
| Porphyric neuropathy | Q34349052 | ||
| Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias | Q34366289 | ||
| Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement | Q34520894 | ||
| Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria | Q35250368 | ||
| The Mitochondrial Proteome and Human Disease | Q35427460 | ||
| Phenobarbital induction of cytochrome P-450 gene expression | Q35887158 | ||
| Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. | Q36319508 | ||
| The acute hepatic porphyrias: Current status and future challenges | Q37801088 | ||
| Purple pigments: the pathophysiology of acute porphyric neuropathy. | Q37920169 | ||
| Physiological diversity of mitochondrial oxidative phosphorylation | Q38452535 | ||
| Mitochondrial and nuclear DNA damage induced by 5-aminolevulinic acid. | Q40492564 | ||
| Sustained high plasma 5-aminolaevulinic acid concentration in a volunteer: no porphyric symptoms | Q41127906 | ||
| Acute porphyrias: pathogenesis of neurological manifestations | Q41727540 | ||
| Liver transplantation as a cure for acute intermittent porphyria | Q44786720 | ||
| Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis | Q45859940 | ||
| Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells. | Q46838872 | ||
| The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. | Q48248957 | ||
| MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome | Q51960665 | ||
| P433 | issue | 17 | |
| P304 | page(s) | 5015-5023 | |
| P577 | publication date | 2015-06-12 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria | |
| P478 | volume | 24 |
| Q91765565 | A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria |
| Q41440547 | A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen |
| Q61807415 | Feasibility of cellular bioenergetics as a biomarker in porphyria patients |
| Q91428291 | Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies |
| Q92462827 | Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias |
| Q91209146 | Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction |
| Q91428293 | Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias |
| Q58560837 | Selection and Validation of Reference Genes for RT-PCR Expression Analysis of Candidate Genes Involved in Morphine-Induced Conditioned Place Preference Mice |
| Q90527095 | Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria |
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