Found: 46
Select item for more details and to access through your institution.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Autofluorescence imaging within the liver: a promising tool for the detection and characterization of primary liver tumors.
- Published in:
- European Radiology, 2022, v. 32, n. 4, p. 2481, doi. 10.1007/s00330-021-08307-9
- By:
- Publication type:
- Article
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 12, p. 798, doi. 10.3390/metabo11120798
- By:
- Publication type:
- Article
Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 1, p. 130, doi. 10.3390/life14010130
- By:
- Publication type:
- Article
LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disorders.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 10, p. 1557, doi. 10.1515/cclm-2014-1093
- By:
- Publication type:
- Article
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.
- Published in:
- Kidney International, 2015, v. 88, n. 2, p. 386, doi. 10.1038/ki.2015.97
- By:
- Publication type:
- Article
Hepcidin regulates intrarenal iron handling at the distal nephron.
- Published in:
- Kidney International, 2013, v. 84, n. 4, p. 756, doi. 10.1038/ki.2013.142
- By:
- Publication type:
- Article
Deficient mitophagy pathways in sickle cell disease.
- Published in:
- British Journal of Haematology, 2021, v. 193, n. 5, p. 988, doi. 10.1111/bjh.17416
- By:
- Publication type:
- Article
Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.
- Published in:
- British Journal of Haematology, 2017, v. 178, n. 4, p. 648, doi. 10.1111/bjh.14164
- By:
- Publication type:
- Article
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 916, doi. 10.1038/ng.2348
- By:
- Publication type:
- Article
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
- Published in:
- Nature Genetics, 2002, v. 30, n. 1, p. 27, doi. 10.1038/ng809
- By:
- Publication type:
- Article
Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096387
- By:
- Publication type:
- Article
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report.
- Published in:
- Skin Health & Disease, 2024, v. 4, n. 2, p. 1, doi. 10.1002/ski2.342
- By:
- Publication type:
- Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 461, doi. 10.1007/s00439-019-02102-9
- By:
- Publication type:
- Article
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 256, doi. 10.1007/s00439-003-1059-5
- By:
- Publication type:
- Article
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1121, doi. 10.1038/ejhg.2009.36
- By:
- Publication type:
- Article
Correction to: Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.
- Published in:
- Metabolomics, 2018, v. 14, n. 1, p. 1, doi. 10.1007/s11306-017-1305-9
- By:
- Publication type:
- Article
Issue Cover.
- Published in:
- Liver International, 2022, v. 42, n. 1, p. i, doi. 10.1111/liv.15145
- By:
- Publication type:
- Article
Inside Front Cover.
- Published in:
- Liver International, 2022, v. 42, n. 1, p. ii, doi. 10.1111/liv.15146
- By:
- Publication type:
- Article
Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study.
- Published in:
- Liver International, 2022, v. 42, n. 1, p. 161, doi. 10.1111/liv.15090
- By:
- Publication type:
- Article
The Genetic Architecture of Chronic Mountain Sickness in Peru.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00690
- By:
- Publication type:
- Article
Quantification of Urine and Plasma Porphyrin Precursors Using LC-MS in Acute Hepatic Porphyrias: Improvement in Routine Diagnosis and in the Monitoring of Kidney Failure Patients.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 10, p. 1186, doi. 10.1093/clinchem/hvad117
- By:
- Publication type:
- Article
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
- Published in:
- European Journal of Heart Failure, 2013, v. 15, n. 3, p. 267, doi. 10.1093/eurjhf/hfs178
- By:
- Publication type:
- Article
Porphyria and kidney diseases.
- Published in:
- Clinical Kidney Journal, 2018, v. 11, n. 2, p. 191, doi. 10.1093/ckj/sfx146
- By:
- Publication type:
- Article
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 723, doi. 10.1111/cge.13700
- By:
- Publication type:
- Article
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 317, doi. 10.1111/cge.13594
- By:
- Publication type:
- Article
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Late-Onset X-Linked Dominant Protoporphyria: An Etiology of Photosensitivity in the Elderly.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 6, p. 1688, doi. 10.1038/jid.2012.467
- By:
- Publication type:
- Article
Mutations in the Ferrochelatase Gene of Four Spanish Patients with Erythropoietic Protoporphyria.
- Published in:
- Journal of Investigative Dermatology, 1998, v. 111, n. 3, p. 406, doi. 10.1046/j.1523-1747.1998.00327.x
- By:
- Publication type:
- Article
Very low prevalence of iron deficiency among young French children: A national cross-sectional hospital-based survey.
- Published in:
- Maternal & Child Nutrition, 2018, v. 14, n. 1, p. n/a, doi. 10.1111/mcn.12460
- By:
- Publication type:
- Article
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 662, doi. 10.1002/jimd.12612
- By:
- Publication type:
- Article
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1164, doi. 10.1093/hmg/ddy030
- By:
- Publication type:
- Article
Mitochondrial energetic defects in muscle and brain of a Hmbs<sup>-/-</sup> mouse model of acute intermittent porphyria.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 5015, doi. 10.1093/hmg/ddv222
- By:
- Publication type:
- Article
The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2764, doi. 10.1093/hmg/ddv037
- By:
- Publication type:
- Article
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1280, doi. 10.1093/hmg/dds531
- By:
- Publication type:
- Article
Epistasis in iron metabolism: complex interactions between <i>Cp</i>, <i>Mon1a</i>, and <i>Slc40a1</i> loci and tissue iron in mice.
- Published in:
- Mammalian Genome, 2013, v. 24, n. 11/12, p. 427, doi. 10.1007/s00335-013-9479-6
- By:
- Publication type:
- Article
Persistence of Intraluminal Thrombus Makes Saccular Aneurysm More Biologically Active than Fusiform in an Experimental Rat Model.
- Published in:
- Journal of Vascular Research, 2020, v. 57, n. 3, p. 164, doi. 10.1159/000506159
- By:
- Publication type:
- Article
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. E284, doi. 10.1002/humu.20871
- By:
- Publication type:
- Article
Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3089, doi. 10.1093/hmg/ddi342
- By:
- Publication type:
- Article
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
- Published in:
- Genes, 2020, v. 11, n. 5, p. 574, doi. 10.3390/genes11050574
- By:
- Publication type:
- Article
TSPO2 translocates 5‐aminolevulinic acid into human erythroleukemia cells.
- Published in:
- Biology of the Cell (Wiley-Blackwell), 2020, v. 112, n. 4, p. 113, doi. 10.1111/boc.201900098
- By:
- Publication type:
- Article
Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.
- Published in:
- Human Mutation, 1997, v. 10, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(1997)10:1<86::AID-HUMU15>3.0.CO;2-W
- By:
- Publication type:
- Article
Stability of serum ferritin measured by immunoturbidimetric assay after storage at -80°C for several years.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0188332
- By:
- Publication type:
- Article