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For: Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, Balwani M, Doheny D, Peter I, Chen R, Desnick RJ. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Hum Mutat 2016;37:1215-22. [PMID: 27539938 DOI: 10.1002/humu.23067] [Cited by in Crossref: 84] [Cited by in F6Publishing: 87] [Article Influence: 12.0] [Reference Citation Analysis]
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12 Ghosh R, León-Ruiz M, Singh Sardar S, Naga D, Roy D, Ghosh T, Dubey S, Benito-León J. A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria. Qatar Med J 2022;2022:46. [PMID: 36304064 DOI: 10.5339/qmj.2022.46] [Reference Citation Analysis]
13 Molina L, Zhu J, Trépo E, Bayard Q, Amaddeo G, Blanc JF, Calderaro J, Ma X, Zucman-Rossi J, Letouzé E; GENTHEP Consortium. Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma. J Hepatol 2022;77:1038-46. [PMID: 35636578 DOI: 10.1016/j.jhep.2022.05.018] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 5.0] [Reference Citation Analysis]
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15 Majeed CN, Ma CD, Xiao T, Rudnick S, Bonkovsky HL. Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy. DDDT 2022;Volume 16:1827-1845. [DOI: 10.2147/dddt.s281631] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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18 Marcacci M, Ricci A, Cuoghi C, Marchini S, Pietrangelo A, Ventura P. Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives. Orphanet J Rare Dis 2022;17:160. [PMID: 35392955 DOI: 10.1186/s13023-022-02314-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
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22 Sirch C, Khanna N, Frassetto L, Bianco F, Artero ML. Diagnosis of acute intermittent porphyria in a renal transplant patient: A case report. World J Transplant 2022; 12(1): 8-14 [DOI: 10.5500/wjt.v12.i1.8] [Reference Citation Analysis]
23 Córdoba KM, Jericó D, Sampedro A, Jiang L, Iraburu MJ, Martini PG, Berraondo P, Avila MA, Fontanellas A. Messenger RNA as a personalized therapy: The moment of truth for rare metabolic diseases. mRNA-Based Therapeutics 2022. [DOI: 10.1016/bs.ircmb.2022.03.005] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
24 Ortega AJ, Cherukuri S, Kalas MA, Lee B, Guzman J, Robles A, Zuckerman MJ, Al-bayati I. A Perfect Storm: Abdominal Pain and Ileus Explained by Acute Intermittent Porphyria Caused by Prehospitalization and Intrahospitalization Factors. Journal of Investigative Medicine High Impact Case Reports 2022;10:232470962211092. [DOI: 10.1177/23247096221109206] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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28 de Souza PVS, Badia BML, Farias IB, Pinto WBVR, Oliveira ASB. Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations. Front Neurosci 2021;15:715523. [PMID: 34646118 DOI: 10.3389/fnins.2021.715523] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
29 Erwin AL, Balwani M. Porphyrias in the Age of Targeted Therapies. Diagnostics (Basel) 2021;11:1795. [PMID: 34679493 DOI: 10.3390/diagnostics11101795] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
30 Longo M, Paolini E, Meroni M, Duca L, Motta I, Fracanzani AL, Di Pierro E, Dongiovanni P. α-Lipoic Acid Improves Hepatic Metabolic Dysfunctions in Acute Intermittent Porphyria: A Proof-of-Concept Study. Diagnostics (Basel) 2021;11:1628. [PMID: 34573969 DOI: 10.3390/diagnostics11091628] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
31 Vassiliou D, Sardh E. Acute hepatic porphyria and maternal health: Clinical and biochemical follow-up of 44 pregnancies. J Intern Med 2021. [PMID: 34411356 DOI: 10.1111/joim.13376] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
32 Di Pierro E, De Canio M, Mercadante R, Savino M, Granata F, Tavazzi D, Nicolli AM, Trevisan A, Marchini S, Fustinoni S. Laboratory Diagnosis of Porphyria. Diagnostics (Basel) 2021;11:1343. [PMID: 34441276 DOI: 10.3390/diagnostics11081343] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
33 Kiew CK, Lam ASEL. Unexpected presentation of acute porphyria. BMJ Case Rep 2021;14:e241580. [PMID: 34187794 DOI: 10.1136/bcr-2021-241580] [Reference Citation Analysis]
34 Stutterd CA, Kidd A, Florkowski C, Janus E, Fanjul M, Raizis A, Wu TY, Archer J, Leventer RJ, Amor DJ, Lukic V, Bahlo M, Gow P, Lockhart PJ, van der Knaap MS, Delatycki MB. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. Am J Med Genet A 2021. [PMID: 34089223 DOI: 10.1002/ajmg.a.62377] [Reference Citation Analysis]
35 Li P, Maitra D, Kuo N, Bonkovsky HL, Omary MB. Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database. Blood Adv 2021;5:12-5. [PMID: 33570620 DOI: 10.1182/bloodadvances.2020003150] [Reference Citation Analysis]
36 Jaramillo-Calle DA, Martinez YA, Balwani M, Fernandez C, Toro M. Porphyria attacks in prepubertal children and adolescents. Mol Genet Metab 2021;133:242-9. [PMID: 34083144 DOI: 10.1016/j.ymgme.2021.04.008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
37 Wang B. Novel treatment options for acute hepatic porphyrias. Curr Opin Gastroenterol 2021;37:194-9. [PMID: 33769375 DOI: 10.1097/MOG.0000000000000734] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
38 Saberi B, Naik H, Overbey JR, Erwin AL, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, K Singal A, M McGuire B, Desnick RJ, Balwani M. Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Hepatology 2021;73:1736-46. [PMID: 32681675 DOI: 10.1002/hep.31460] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 8.0] [Reference Citation Analysis]
39 Syed YY. Givosiran: A Review in Acute Hepatic Porphyria. Drugs 2021;81:841-8. [PMID: 33871817 DOI: 10.1007/s40265-021-01511-3] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 6.0] [Reference Citation Analysis]
40 Anderson KE, Lobo R, Salazar D, Schloetter M, Spitzer G, White AL, Young RM, Bonkovsky HL, Frank EL, Mora J, Tortorelli S. Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians. Am J Med Sci 2021;362:113-21. [PMID: 33865828 DOI: 10.1016/j.amjms.2021.03.004] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
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42 Lissing M, Nowak G, Adam R, Karam V, Boyd A, Gouya L, Meersseman W, Melum E, Ołdakowska-Jedynak U, Reiter FP, Colmenero J, Sanchez R, Herden U, Langendonk J, Ventura P, Isoniemi H, Boillot O, Braun F, Perrodin S, Mowlem E, Wahlin S; European Liver and Intestine Transplant Association. Liver Transplantation for Acute Intermittent Porphyria. Liver Transpl 2021;27:491-501. [PMID: 33259654 DOI: 10.1002/lt.25959] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 11.0] [Reference Citation Analysis]
43 Desnick RJ, Balwani M, Anderson KE. Heme Biosynthesis and the Porphyrias in Children. Liver Disease in Children 2021. [DOI: 10.1017/9781108918978.030] [Reference Citation Analysis]
44 Solares I, Izquierdo-Sánchez L, Morales-Conejo M, Jericó D, Castelbón FJ, Córdoba KM, Sampedro A, Lumbreras C, Moreno-Aliaga MJ, Enríquez de Salamanca R, Berraondo P, Fontanellas A. High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach. Biomedicines 2021;9:255. [PMID: 33807619 DOI: 10.3390/biomedicines9030255] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
45 Bustad HJ, Kallio JP, Vorland M, Fiorentino V, Sandberg S, Schmitt C, Aarsand AK, Martinez A. Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators. Int J Mol Sci 2021;22:E675. [PMID: 33445488 DOI: 10.3390/ijms22020675] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 5.5] [Reference Citation Analysis]
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48 Thapar M, Rudnick S, Bonkovsky HL. Givosiran, a novel treatment for acute hepatic porphyrias. Expert Review of Precision Medicine and Drug Development 2021;6:9-18. [DOI: 10.1080/23808993.2021.1838275] [Cited by in Crossref: 5] [Cited by in F6Publishing: 1] [Article Influence: 1.7] [Reference Citation Analysis]
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54 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. Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria. Mol Genet Metab 2020;131:259-66. [PMID: 32893121 DOI: 10.1016/j.ymgme.2020.08.004] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
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57 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. EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology 2020;71:1546-58. [PMID: 31512765 DOI: 10.1002/hep.30936] [Cited by in Crossref: 62] [Cited by in F6Publishing: 60] [Article Influence: 20.7] [Reference Citation Analysis]
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60 Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda M. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. J Inherit Metab Dis 2019;42:186-94. [PMID: 30740734 DOI: 10.1002/jimd.12040] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 4.0] [Reference Citation Analysis]
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