Publications scientifiques récentes

Retrouvez sur cette page les publications scientifiques récentes concernant les maladies héréditaires du métabolisme.

Publications multicentriques depuis 2020

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Wicker C, Roux CJ, Goujon L, de Feraudy Y, Hully M, Brassier A, Bérat CM, Chemaly N, Wiedemann A, Damaj L, Abi-Warde MT, Dobbelaere D, Roubertie A, Cano A, Arion A, Kaminska A, Da Costa S, Bruneel A, Vuillaumier-Barrot S, Boddaert N, Pascreau T, Borgel D, Kossorotoff M, Harroche A, de Lonlay P.Mol Genet Metab. 2023 Nov;140(3):107674.

Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients.

Tuchmann-Durand C, Roda C, Renard P, Mortamet G, Bérat CM, Altenburger L, de Larauz MH, Thevenet E, Cottart CH, Moulin F, Bouchereau J, Brassier A, Arnoux JB, Schiff M, Bednarek N, Lamireau D, Garros A, Mention K, Cano A, Finger L, Pelosi M, Brochet CS, Caccavelli L, Raphalen JH, Renolleau S, Oualha M, de Lonlay P.J Inherit Metab Dis. 2023 Jul;46(4):649-661.

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?

Renard P, Caccavelli L, Legendre A, Tuchmann-Durand C, Balakirouchenane D, Blanchet B, Narjoz C, Straube M, Hubas A, Garros A, Mention K, Bednarek N, Goudin N, Broissand C, Schlatter J, Cisternino S, Cagnard N, van Endert P, Diana J, de Calbiac H, de Lonlay P. Biomed Pharmacother. 2023 Jul;163:114813

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Curie A, Lion-François L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, Brun-Laurisse A, Gheurbi F, Buchy M, Halep H, Cheillan D, Mercier C, Brassier A, Desnous B, Kassai B, De Lonlay P, Des Portes V.Neurology. 2024 Apr 23;102(8):e209243.

Diagnosis and Outcomes of Late-Onset Wilson's Disease: A National Registry-Based Study.

Nilles C, Obadia MA, Sobesky R, Dumortier J, Guillaud O, Laurencin C, Moreau C, Vanlemmens C, Ory-Magne F, de Ledinghen V, Bardou-Jacquet E, Fluchère F, Collet C, Oussedik-Djebrani N, Woimant F, Poujois A. Mov Disord. 2023 Feb;38(2):321-332.

Prevalence of HFE-related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesection.

Le Gac G, Scotet V, Gourlaouen I, L'Hostis C, Merour MC, Karim Z, Deugnier Y, Bardou-Jacquet E, Lefebvre T, Assari S, Ferec C. Aliment Pharmacol Ther. 2022 Apr;55(8):1016-1027.

Deep brain stimulation for severe dystonia associated with Wilson disease: A prospective multicenter meta-analysis of an N-of-1 trial.

Laurencin C, Poujois A, Bonjour M, Demily C, Klinger H, Roze E, Leclert V, Danaila T, Langlois-Jacques C, Couchonnal E, Woimant F, Obadia MA, Perez G, Pernon M, Blanchet L, Broussolle E, Vidailhet M, Kassai B, Moro E, Karachi C, Polo G, Grabli D, Portefaix A, Thobois S. Eur J Neurol. 2025 Jan;32(1):e16524.

Diagnosis and Outcomes of Late-Onset Wilson's Disease: A National Registry-Based Study.

Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire.

Noël E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagège A, Dupuis-Siméon F, Derrien Ansquer V, Germain DP, Lidove O. Orphanet J Rare Dis. 2019 Dec 4;14(1):284.

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.

Demaret T, Lacaille F, Wicker C, Arnoux JB, Bouchereau J, Belloche C, Gitiaux C, Grevent D, Broissand C, Adjaoud D, Abi Warde MT, Plantaz D, Bekri S, de Lonlay P, Brassier A. Orphanet J Rare Dis. 2021 Dec 14;16(1):507.

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders.

Mandia D, Plaze M, Le Ber I, Ewenczyk C, Morin A, Carle G, Consoli A, Degardin A, Amad A, Moreau C, Anheim M, Tranchant C, Mélé N, Roue-Jagot C, Lagarde J, Sarazin M, Hamelin L, Ellul P, Pagan C, Pettazzoni M, Bekri S, Belliard S, Goizet C, Wallon D, Lamari F, Nadjar Y. J Neurol. 2020 Nov;267(11):3371-3377.

Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.

Sudrié-Arnaud B, Snanoudj S, Dabaj I, Dranguet H, Abily-Donval L, Lebas A, Vezain M, Héron B, Marie I, Duval-Arnould M, Marret S, Tebani A, Bekri S. Diagnostics (Basel). 2021 Feb 12;11(2):294. doi: 10.3390/diagnostics11020294. PMID: 33673364 Free PMC article.

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.

Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D. Int J Neonatal Screen. 2023 Feb 1;9(1):6.

A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.

Tebani A, Mauhin W, Abily-Donval L, Lesueur C, Berger MG, Nadjar Y, Berger J, Benveniste O, Lamari F, Laforêt P, Noel E, Marret S, Lidove O, Bekri S. J Clin Med. 2020 May 2;9(5):1325.

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.

Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A. Bone Marrow Transplant. 2023 Mar;58(3):295-302. doi: 10.1038/s41409-022-01886-1. Epub 2022 Dec 9. PMID: 36494569 Free PMC article.

A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.

Gardin A, Mussini C, Héron B, Schiff M, Brassier A, Dobbelaere D, Broué P, Sevin C, Vanier MT, Habes D, Jacquemin E, Gonzales E. J Pediatr. 2023 Mar;254:75-82.e4.

Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.

Marelli C, Fouilhoux A, Benoist JF, De Lonlay P, Guffon-Fouilhoux N, Brassier A, Cano A, Chabrol B, Pennisi A, Schiff M, Acquaviva C, Murphy E, Servais A, Lachmann R. J Inherit Metab Dis. 2022 Sep;45(5):937-951. doi: 10.1002/jimd.12525. Epub 2022 Jun 23. PMID: 35618652

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. J Inherit Metab Dis. 2021 Mar;44(2):415-425.

Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.

Gorce M, Lebigot E, Arion A, Brassier A, Cano A, De Lonlay P, Feillet F, Gay C, Labarthe F, Nassogne MC, Roche S, Roubertie A, Sacaze E, Touati G, Broué P. J Inherit Metab Dis. 2022 Mar;45(2):215-222. doi: 10.1002/jimd.12452. Epub 2021 Dec 1. PMID: 34687058 Review.

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. J Med Genet. 2022 Apr;59(4):377-384.

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B. Orphanet J Rare Dis. 2023 Jul 21;18(1):204.

Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.

Laur D, Pichard S, Bekri S, Caillaud C, Froissart R, Levade T, Roubertie A, Desguerre I, Héron B, Auvin S. J Inherit Metab Dis. 2023 Sep;46(5):972-981.

Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.

Ouattara A, Resseguier N, Cano A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Auquier P, Chabrol B. J Pediatr. 2022 Mar;242:192-200.e3.

Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.

Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.

Cano A, Resseguier N, Ouattara A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Chabrol B, Auquier P. J Pediatr. 2020 May;220:184-192.e6.

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Eur J Neurol. 2023 Sep;30(9):2828-2837.

Patient reported outcomes of patients with Gaucher disease type 1 treated with eliglustat in real-world settings: The ELIPRO study.

Camou F, Lagadec A, Coutinho A, Berger MG, Cador-Rousseau B, Gaches F, Belmatoug N. Mol Genet Metab. 2023 Nov;140(3):107667.

Semaphorin 7A: A novel marker of disease activity in Gaucher disease.

Franco M, Reihani N, Dupuis L, Collec E, Billette de Villemeur T, de Person M, Moussa F, Berger MG, Belmatoug N, Le Van Kim C. Am J Hematol. 2020 May;95(5):483-491. doi: 10.1002/ajh.25744. Epub 2020 Feb 7. PMID: 31990411 Free article.

Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey.

Genevaz D, Arnoux A, Marcel C, Brassier A, Pichard S, Feillet F, Labarthe F, Chabrol B, Berger M, Lapointe AS, Frigout Y, Héron B, Chatellier G, Belmatoug N. Orphanet J Rare Dis. 2022 Feb 21;17(1):68.

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Mauhin W, Guffon N, Vanier MT, Froissart R, Cano A, Douillard C, Lavigne C, Héron B, Belmatoug N, Uzunhan Y, Lacombe D, Levade T, Duvivier A, Pulikottil-Jacob R, Laredo F, Pichard S, Lidove O; ASSUR Study Group. Orphanet J Rare Dis. 2024 Aug 5;19(1):289. doi: 10.1186/s13023-024-03234-6. PMID: 39103853 Free PMC article.

A Real-World Investigation of MRI Changes in Bone in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: The EIROS Study.

Bengherbia M, Berger M, Hivert B, Rigaudier F, Bracoud L, Vaeterlein O, Yousfi K, Maric M, Malcles M, Belmatoug N. J Clin Med. 2024 May 16;13(10):2926.

Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.

Nguyen Y, Stirnemann J, Lautredoux F, Cador B, Bengherbia M, Yousfi K, Hamroun D, Astudillo L, Billette de Villemeur T, Brassier A, Camou F, Dalbies F, Dobbelaere D, Gaches F, Leguy-Seguin V, Masseau A, Pers YM, Pichard S, Serratrice C, Berger MG, Fantin B, Belmatoug N, On Behalf Of The French Evaluation Of Gaucher Disease Treatment Committee. Int J Mol Sci. 2020 Feb 13;21(4):1247.

[Pulmonary phenotypes of inborn errors of metabolism].

Mauhin W, Brassier A, London J, Subran B, Zeggane A, Besset Q, Jammal C, Montardi C, Mellot C, Strauss C, Borie R, Lidove O. Rev Mal Respir. 2022 Nov;39(9):758-777.

When and How to Diagnose Fabry Disease in Clinical Pratice.

Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, Ancellin S, Lidove O, Gaches F. Am J Med Sci. 2020 Dec;360(6):641-649. doi: 10.1016/j.amjms.2020.07.011. Epub 2020 Jul 10. PMID: 32723516 Review.

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.

Mauhin W, Borie R, Dalbies F, Douillard C, Guffon N, Lavigne C, Lidove O, Brassier A. J Clin Med. 2022 Feb 10;11(4):920.

Quality of life and depression in Wilson's disease: a large prospective cross-sectional study.

Chevalier K, Rahli D, de Veyrac L, Guillaume J, Obadia MA, Poujois A. Orphanet J Rare Dis. 2023 Jun 29;18(1):168.

Reply to "Epidemiology, treatment and burden of Wilson disease in France: A 10-year analysis of the National health insurance database".

Obadia MA, Woimant F, Tuppin P, Debray D, Poujois A. Clin Res Hepatol Gastroenterol. 2024 Feb;48(2):102265.

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

Jardel A, Bonnet C, Frismand-Kryloff S, Ravel JM, Schmitt E, Obadia MA, Delassaux S, Bronner M, Poujois A, Renaud M. J Neurol. 2022 Dec;269(12):6664-6666.

Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64 (10) (October 2021) 104305].

Couchonnal E, Bouchard S, Sandahl TD, Pagan C, Lion-François L, Guillaud O, Habes D, Debray D, Lamireau T, Broué P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Belmalih A, Poujois A, Collet C, Francou B, Brunet AS, Lachaux A, Misrahi M, Bost M. Eur J Med Genet. 2022 Mar;65(3):104453.

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.

Couchonnal E, Lion-François L, Guillaud O, Habes D, Debray D, Lamireau T, Broué P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Dumortier J, Belmalih A, Poujois A, Jacquemin E, Brunet AS, Bost M, Lachaux A. J Pediatr Gastroenterol Nutr. 2021 Oct 1;73(4):e80-e86.

ATP7B variant spectrum in a French pediatric Wilson disease cohort.

Couchonnal E, Bouchard S, Sandahl TD, Pagan C, Lion-François L, Guillaud O, Habes D, Debray D, Lamireau T, Broué P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Belmalih A, Poujois A, Brunet AS, Lachaux A, Bost M. Eur J Med Genet. 2021 Oct;64(10):104305.

Diagnosis and Outcomes of Late-Onset Wilson's Disease: A National Registry-Based Study.

Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria.

Lazareth H, Talbi N, Kamar N, Levi C, Moulin B, Caillard S, Frimat L, Chemouny J, Chatelet V, Vachey C, Snanoudj R, Lefebvre T, Karras A, Gouya L, Schmitt C, Puy H, Pallet N. Mol Genet Metab. 2020 Sep-Oct;131(1-2):259-266.

Renal Function Decline With Small Interfering RNA Silencing Aminolevulinic Acid Synthase 1 (ALAS1).

Lazareth H, Poli A, Bignon Y, Mirmiran A, Rabant M, Cohen R, Schmitt C, Puy H, Karras A, Gouya L, Pallet N. Kidney Int Rep. 2021 Apr 15;6(7):1904-1911.

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.

Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson KE. Hepatology. 2020 May;71(5):1546-1558.

Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.

Besnard C, Schmitt C, Galmiche-Rolland L, Debray D, Fabre M, Molina T, Gouya L, Ged C, Castelle M, Cavazzana M, Magrin E, Neven B, Moshous D, Blanche S, Frémond ML. Biol Blood Marrow Transplant. 2020 Apr;26(4):704-711.

Large-scale screening of lipase acid deficiency in at risk population.

Tebani A, Sudrié-Arnaud B, Boudabous H, Brassier A, Anty R, Snanoudj S, Abergel A, Abi Warde MT, Bardou-Jacquet E, Belbouab R, Blanchet E, Borderon C, Bronowicki JP, Cariou B, Carette C, Dabbas M, Dranguet H, de Ledinghen V, Ferrières J, Guillaume M, Krempf M, Lacaille F, Larrey D, Leroy V, Musikas M, Nguyen-Khac E, Ouzan D, Perarnau JM, Pilon C, Ratzlu V, Thebaut A, Thevenot T, Tragin I, Triolo V, Vergès B, Vergnaud S, Bekri S. Clin Chim Acta. 2021 Aug;519:64-69.

Publications européennes :

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.

Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD). Sci Rep. 2020 Jul 20;10(1):11948. doi: 10.1038/s41598-020-67496-3. PMID: 32686765 Free PMC article.

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators. Genet Med. 2023 Feb;25(2):100328.

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37.

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.

Serratrice C, Stirnemann J, Berrahal A, Belmatoug N, Camou F, Caillaud C, Billette de Villemeur T, Dalbies F, Cador B, Froissart R, Masseau A, Brassier A, Hivert B, Swiader L, Bertchansky I, de Moreuil C, Chabrol B, Durieu I, Leguy Seguin V, Astudillo L, Humbert S, Pichard S, Marcel C, Hau Rainsard I, Bengherbia M, Yousfi K, Berger MG. J Clin Med. 2020 Jul 22;9(8):2343.

Towards Achieving Equity and Innovation in Newborn Screening across Europe.

Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, Bottarelli V, van der Burg M, Dekkers E, Battelino T, Prevot J, Schielen PCJI, Bonham JR. Int J Neonatal Screen. 2022 May 6;8(2):31.

Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.

Jones SA, Cheillan D, Chakrapani A, Church HJ, Heales S, Wu THY, Morton G, Roberts P, Sluys EF, Burlina A. Int J Neonatal Screen. 2022 Mar 15;8(1):20.

Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20".

Jones SA, Cheillan D, Chakrapani A, Church HJ, Heales S, Wu THY, Morton G, Roberts P, Sluys EF, Burlina A. Int J Neonatal Screen. 2023 Feb 16;9(1):8.

Towards Achieving Equity and Innovation in Newborn Screening across Europe.

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.

Loeber JG, Platis D, Zetterström RH, Almashanu S, Boemer F, Bonham JR, Borde P, Brincat I, Cheillan D, Dekkers E, Dimitrov D, Fingerhut R, Franzson L, Groselj U, Hougaard D, Knapkova M, Kocova M, Kotori V, Kozich V, Kremezna A, Kurkijärvi R, La Marca G, Mikelsaar R, Milenkovic T, Mitkin V, Moldovanu F, Ceglarek U, O'Grady L, Oltarzewski M, Pettersen RD, Ramadza D, Salimbayeva D, Samardzic M, Shamsiddinova M, Songailiené J, Szatmari I, Tabatadze N, Tezel B, Toromanovic A, Tovmasyan I, Usurelu N, Vevere P, Vilarinho L, Vogazianos M, Yahyaoui R, Zeyda M, Schielen PCJI. Int J Neonatal Screen. 2021 Mar 5;7(1):15.

Regulatory landscape of providing information on newborn screening to parents across Europe.

Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. Eur J Hum Genet. 2021 Jan;29(1):67-78.

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry.

Metry EL, Garrelfs SF, Peters-Sengers H, Hulton SA, Acquaviva C, Bacchetta J, Beck BB, Collard L, Deschênes G, Franssen C, Kemper MJ, Lipkin GW, Mandrile G, Mohebbi N, Moochhala SH, Oosterveld MJS, Prikhodina L, Hoppe B, Cochat P, Groothoff JW; OxalEurope Consortium. Kidney Int Rep. 2021 Nov 26;7(2):210-220.

Neurological worsening in Wilson disease - clinical classification and outcome.

Mohr I, Pfeiffenberger J, Eker E, Merle U, Poujois A, Ala A, Weiss KH. J Hepatol. 2023 Aug;79(2):321-328.

Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial.

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