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Article ; Online: Givosiran for Acute Intermittent Porphyria. Reply.

Balwani, Manisha / Sardh, Eliane / Gouya, Laurent

2020 Volume 383, Issue 20, Page(s) 1989–1990

MeSH term(s)	Acetylgalactosamine/analogs & derivatives ; Amides ; Humans ; Porphyria, Acute Intermittent/diagnosis ; Pyrrolidines
Chemical Substances	Amides ; Pyrrolidines ; Acetylgalactosamine (KM15WK8O5T) ; givosiran (ROV204583W)
Language	English
Publishing date	2020-11-11
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMc2026458
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Article: Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.

Goudet, Claire / Ged, Cécile / Petit, Audrey / Desage, Chloe / Mahe, Perrine / Salhi, Aicha / Harzallah, Ines / Blouin, Jean-Marc / Mercie, Patrick / Schmitt, Caroline / Poli, Antoine / Gouya, Laurent / Barlogis, Vincent / Richard, Emmanuel

Life (Basel, Switzerland)

2024 Volume 14, Issue 1

Abstract: 1) Background: Congenital erythropoietic porphyria (CEP), named Günther's disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from ... ...

Abstract	(1) Background: Congenital erythropoietic porphyria (CEP), named Günther's disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This work reviewed the perinatal CEP cases recorded in France in order to analyse their various presentations and evolution. (2) Methods: Clinical and biological data were retrospectively collected through medical and published records. (3) Results: Twenty CEP cases, who presented with severe manifestations during perinatal period, were classified according to the main course of the disease: antenatal features, acute neonatal distress and postnatal diagnosis. Antenatal symptoms (seven patients) were mainly hydrops fetalis, hepatosplenomegaly, anemia, and malformations. Six of them died prematurely. Five babies showed acute neonatal distress, associated with severe anemia, thrombocytopenia, hepatosplenomegaly, liver dysfunction, and marked photosensitivity leading to diagnosis. The only two neonates who survived underwent hematopoietic stem cell transplantation (HSCT). Common features in post-natal diagnosis (eight patients) included hemolytic anemia, splenomegaly, skin sensitivity, and discoloured teeth and urine. All patients underwent HSCT, with success for six of them, but with fatal complications in two patients. The frequency of the missense variant named C73R is striking in antenatal and neonatal presentations, with 9/12 and 7/8 independent alleles, respectively. (4) Conclusions: The most recent cases in this series are remarkable, as they had a less fatal outcome than expected. Regular transfusions from the intrauterine period and early access to HSCT are the main objectives.
Language	English
Publishing date	2024-01-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662250-6
ISSN	2075-1729
ISSN	2075-1729
DOI	10.3390/life14010130
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Article ; Online: Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report.

Peterlin, Pierre / Bonnelye, Julia / Garnier, Alice / Le Bourgeois, Amandine / Guillaume, Thierry / Jullien, Maxime / Dutartre, Hervé / Le Moigne, Marie / Schmitt, Caroline / Gouya, Laurent / Poli, Antoine / Barbarot, Sebastien / Chevallier, Patrice

Skin health and disease

2024 Volume 4, Issue 2, Page(s) e342

Abstract: Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase. Allogeneic stem ... ...

Abstract	Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase. Allogeneic stem cell transplantation (Allo-SCT) represents the only curative treatment and few allotransplanted cases have been reported in children but not in adults. Here we report for the first time the successful cure of a 46-year old man with CEP with a 5-year follow-up after Allo-SCT.
Language	English
Publishing date	2024-01-27
Publishing country	England
Document type	Case Reports
ISSN	2690-442X
ISSN (online)	2690-442X
DOI	10.1002/ski2.342
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Article ; Online: Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Arnaud, Pauline / Mougin, Zakaria / Baujat, Genevieve / Drouin-Garraud, Valérie / El Chehadeh, Salima / Gouya, Laurent / Odent, Sylvie / Jondeau, Guillaume / Boileau, Catherine / Hanna, Nadine / Le Goff, Carine

Journal of medical genetics

2024 Volume 61, Issue 5, Page(s) 469–476

Abstract: Background: Marfan syndrome (MFS) is a multisystem disease with a unique combination of skeletal, cardiovascular and ocular features. Geleophysic/acromicric dysplasias (GPHYSD/ACMICD), characterised by short stature and extremities, are described as ' ... ...

Abstract	Background: Marfan syndrome (MFS) is a multisystem disease with a unique combination of skeletal, cardiovascular and ocular features. Geleophysic/acromicric dysplasias (GPHYSD/ACMICD), characterised by short stature and extremities, are described as 'the mirror image' of MFS. The numerous Methods: Since 1996, more than 5000 consecutive probands have been referred nationwide to our laboratory for molecular diagnosis of suspected MFS. Results: We identified five MFS probands carrying distinct heterozygous pathogenic in-frame variants affecting the TB5 domain of FBN1. The clinical data showed that the probands displayed a classical form of MFS. Strikingly, one missense variant affects an amino acid that was previously involved in GPHYSD. Conclusion: Surprisingly, pathogenic variants in the TB5 domain of FBN1 can lead to two opposite phenotypes: GPHYSD/ACMICD and MFS, suggesting the existence of different pathogenic sequences with the involvement of tissue specificity. Further functional studies are ongoing to determine the precise role of this domain in the physiopathology of each disease.
MeSH term(s)	Humans ; Marfan Syndrome/genetics ; Marfan Syndrome/pathology ; Fibrillin-1/genetics ; Fibrillins/genetics ; Bone Diseases, Developmental/genetics ; Mutation ; Limb Deformities, Congenital
Chemical Substances	Fibrillin-1 ; Fibrillins
Language	English
Publishing date	2024-04-19
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2023-109646
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Article: Preventing hyperhomocysteinemia using vitamin B

Redonnet-Vernhet, Isabelle / Mercié, Patrick / Lebreton, Louis / Blouin, Jean-Marc / Bronnimann, Didier / Mesli, Samir / Guibet, Claire / Ribeiro, Emmanuel / Gensous, Noémie / Duffau, Pierre / Gouya, Laurent / Richard, Emmanuel

Molecular genetics and metabolism reports

2024 Volume 39, Page(s) 101076

Abstract: Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment ...

Abstract	Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment of acute hepatic porphyria targeting the first and rate-limiting δ-aminolevulinic acid synthase 1 (ALAS1) enzyme of heme biosynthetic pathway. We described a 72-year old patient who presented with severe inaugural neurological form of acute intermittent porphyria evolving for several years which made her eligible for givosiran administration. On initiation of treatment, the patient developed a major hyperhomocysteinemia (>400 μmol/L) which necessitated to discontinue the siRNA-based therapy. A thorough metabolic analysis in the patient suggests that hyperhomocysteinemia could be attributed to a functional deficiency of cystathionine β-synthase (CBS) enzyme induced by givosiran. Long-term treatment with vitamin B
Language	English
Publishing date	2024-04-04
Publishing country	United States
Document type	Case Reports
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2024.101076
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Article: Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay.

Poli, Antoine / Schmitt, Caroline / Moulouel, Boualem / Mirmiran, Arienne / Puy, Hervé / Lefèbvre, Thibaud / Gouya, Laurent

Metabolites

2021 Volume 11, Issue 12

Abstract: Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells. The porphyrins deposition in tissues, including the skin, leads to photosensitivity that is present ... ...

Abstract	Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells. The porphyrins deposition in tissues, including the skin, leads to photosensitivity that is present in all erythropoietic porphyrias. In the bone marrow, heme synthesis is mainly controlled by intracellular labile iron by post-transcriptional regulation: translation of
Language	English
Publishing date	2021-11-23
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662251-8
ISSN	2218-1989
ISSN	2218-1989
DOI	10.3390/metabo11120798
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Article ; Online: Systemic Administered mRNA as Therapy for Metabolic Diseases.

Puy, Hervé / Deybach, Jean-Charles / Gouya, Laurent

Trends in molecular medicine

2018 Volume 25, Issue 1, Page(s) 3–5

Abstract: The potential of mRNA to produce therapeutic and protective protein levels is a promising approach for the treatment of a large number of diseases. In a recent study published in Nature Medicine (Published online October 8, 2018. doi.org/10.1038/s41591- ... ...

Abstract	The potential of mRNA to produce therapeutic and protective protein levels is a promising approach for the treatment of a large number of diseases. In a recent study published in Nature Medicine (Published online October 8, 2018. doi.org/10.1038/s41591-018-0199-z), the intravenous delivery of human porphobilinogen deaminase (PBGD) mRNA, targeting the liver, demonstrated its efficacy and safety to replace the defective PBGD protein in preclinical models of acute intermittent porphyria.
MeSH term(s)	Animals ; Disease Models, Animal ; Liver/metabolism ; Metabolic Diseases/genetics ; Metabolic Diseases/therapy ; Nanoparticles/chemistry ; Porphyria, Acute Intermittent/genetics ; Porphyria, Acute Intermittent/therapy ; RNA, Messenger/genetics
Chemical Substances	RNA, Messenger
Language	English
Publishing date	2018-12-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2036490-8
ISSN	1471-499X ; 1471-4914
ISSN (online)	1471-499X
ISSN	1471-4914
DOI	10.1016/j.molmed.2018.11.003
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Zs.A 4345: Show issues

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Article: Management of erythropoietic protoporphyria with cholestatic liver disease: A case report.

Poli, Antoine / Frieri, Camilla / Lefebvre, Thibaud / Delforge, Juliette / Mirmiran, Arienne / Talbi, Neila / Moulouel, Boualem / Six, Marion / Paradis, Valérie / Parquet, Nathalie / Puy, Hervé / Schmitt, Caroline / Aslangul, Elisabeth / de Fontbrune, Flore Sicre / Gouya, Laurent

Molecular genetics and metabolism reports

2023 Volume 37, Page(s) 101018

Abstract: Erythropoietic protoporphyria (EPP) is a rare metabolic disease of the heme biosynthetic pathway where an enzymatic dysfunction results in protoporphyrin IX (PPIX) accumulation in erythroid cells. The porphyrins are photo-reactive and are responsible for ...

Abstract	Erythropoietic protoporphyria (EPP) is a rare metabolic disease of the heme biosynthetic pathway where an enzymatic dysfunction results in protoporphyrin IX (PPIX) accumulation in erythroid cells. The porphyrins are photo-reactive and are responsible for severe photosensitivity in patients, thus drastically decreasing their quality of life. The liver eliminates PPIX and as such, the main and rare complication of EPP is progressive cholestatic liver disease, which can lead to liver failure. The management of this complication is challenging, as it often requires a combination of approaches to promote PPIX elimination and suppress the patient's erythropoiesis. Here we described a 3-year follow-up of an EPP patient, with three episodes of liver involvement, aggravated by the coexistence of a factor VII deficiency. It covers all the different types of intervention available for the management of liver disease, right through to successful allogeneic hematopoietic stem cell transplantation.
Language	English
Publishing date	2023-10-31
Publishing country	United States
Document type	Case Reports
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2023.101018
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Article ; Online: 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.

Poli, Antoine / Manceau, Hana / Nguyen, Anvi Laetitia / Moulouel, Boualem / Dessendier, Nathalie / Talbi, Neila / Puy, Hervé / Junot, Christophe / Gouya, Laurent / Schmitt, Caroline / Lefebvre, Thibaud

Clinical chemistry

2023 Volume 69, Issue 10, Page(s) 1186–1196

Abstract: Background: The quantification of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine are the first-line tests for diagnosis and monitoring of acute hepatic porphyrias (AHP). Ion-exchange chromatography (IEC), which is time- and staff- ... ...

Abstract	Background: The quantification of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine are the first-line tests for diagnosis and monitoring of acute hepatic porphyrias (AHP). Ion-exchange chromatography (IEC), which is time- and staff-consuming and limited to urine, is still the preferred method in many specialized laboratories, despite the development of mass spectrometry-based methods. Methods: We describe a new LC-MS method that allows for rapid and simple quantification of ALA and PBG in urine and plasma with an affordable instrument that was used to analyze 2260 urine samples and 309 blood samples collected in 2 years of routine activity. The results were compared to those obtained with IEC, and urine reference ranges and concentrations in asymptomatic carriers were determined. Plasma concentrations were measured in healthy subjects and subgroups of symptomatic and asymptomatic AHP carriers. Results: In urine, the clinical decision limits were not impacted by the change of method despite discrepancies in low absolute concentrations, leading to lower normal values. Two-thirds of asymptomatic AHP carriers (with the exception of coproporphyria carriers) showed an increased urine PBG concentration. Urine and plasma levels showed a good correlation except in patients with kidney disease in whom the urine/plasma ratio was relatively low. Conclusion: We described an LC-MS based method for the routine diagnosis and monitoring of AHP that allows for the detection of more asymptomatic carriers than the historical method. Blood analysis appears to be particularly relevant for patients with kidney disease, where urine measurement underestimates the increase in ALA and PBG levels.
MeSH term(s)	Humans ; Chromatography, Liquid/methods ; Aminolevulinic Acid/urine ; Tandem Mass Spectrometry/methods ; Porphobilinogen/urine ; Porphyrias, Hepatic ; Renal Insufficiency ; Porphyrins ; Porphyrias/diagnosis
Chemical Substances	Aminolevulinic Acid (88755TAZ87) ; Porphobilinogen (74KHC72QXK) ; Porphyrins
Language	English
Publishing date	2023-08-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80102-1
ISSN	1530-8561 ; 0009-9147
ISSN (online)	1530-8561
ISSN	0009-9147
DOI	10.1093/clinchem/hvad117
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Ud II Zs.171: Show issues

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Article ; Online: Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.

Manceau, Hana / Gouya, Laurent / Puy, Hervé

Current opinion in hematology

2017 Volume 24, Issue 3, Page(s) 198–207

Abstract: Purpose of review: Many studies over the past decade have together identified new genes including modifier genes and new regulation and pathophysiological mechanisms in inherited inborn diseases of the heme biosynthetic pathway. A new porphyria has been ...

Abstract	Purpose of review: Many studies over the past decade have together identified new genes including modifier genes and new regulation and pathophysiological mechanisms in inherited inborn diseases of the heme biosynthetic pathway. A new porphyria has been characterized: X-linked protoporphyria and the perspective to have innovative treatment at very short-term became a reality. We will summarize how recent data on both ALAS1 and ALAS2 have informed our understanding of disease pathogenesis with an emphasis on how this information may contribute to new therapeutic strategies. Recent findings: The development of clinical and biological porphyria networks improved the long-term follow up of cohorts. The ageing of patients have allowed for the identification of novel recurrently mutated genes, and highlighted long-term complications in acute hepatic porphyrias. The treatment of hepatic porphyrias by an RNAi-targeting hepatic ALAS1 is actually tested and may lead to improve the management of acute attacks.In erythropoietic porphyrias, the key role of ALAS2 as a gate keeper of the heme and subsequently hemoglobin synthesis has been demonstrated. Its implication as a modifier gene in over erythroid disorders has also been documented. Summary: The knowledge of both the genetic abnormalities and the regulation of heme biosynthesis has increased over the last 5 years and open new avenues in the management of erythropoietic and acute hepatic porphyrias.
MeSH term(s)	5-Aminolevulinate Synthetase/genetics ; 5-Aminolevulinate Synthetase/metabolism ; 5-Aminolevulinate Synthetase/therapeutic use ; Age Factors ; Animals ; Biomarkers ; Chronic Pain/etiology ; Enzyme Activation ; Erythrocytes/metabolism ; Gene Expression Regulation ; Genes, X-Linked ; Genetic Association Studies ; Genetic Predisposition to Disease ; Heme/biosynthesis ; Humans ; Mutation ; Phenotype ; Porphobilinogen Synthase/deficiency ; Porphobilinogen Synthase/metabolism ; Porphyria, Erythropoietic/diagnosis ; Porphyria, Erythropoietic/etiology ; Porphyria, Erythropoietic/metabolism ; Porphyria, Erythropoietic/therapy ; Porphyrias, Hepatic/diagnosis ; Porphyrias, Hepatic/etiology ; Porphyrias, Hepatic/metabolism ; Porphyrias, Hepatic/therapy ; RNA, Small Interfering/genetics
Chemical Substances	Biomarkers ; RNA, Small Interfering ; Heme (42VZT0U6YR) ; 5-Aminolevulinate Synthetase (EC 2.3.1.37) ; ALAS2 protein, human (EC 2.3.1.37) ; Porphobilinogen Synthase (EC 4.2.1.24)
Language	English
Publishing date	2017-05
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1153887-9
ISSN	1531-7048 ; 1065-6251
ISSN (online)	1531-7048
ISSN	1065-6251
DOI	10.1097/MOH.0000000000000330
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