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Molecular Genetics and Metabolism 封面图

Molecular Genetics and Metabolism

IF3.5
论文数13797
被引数8348
期刊论文 13797
发表时间
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Mass spectrometry measurements of glycosaminoglycans to assess disease-modifying treatments for the mucopolysaccharidoses: Methodological considerations利用质谱法测量糖胺聚糖以评估黏多糖贮积症疾病修饰治疗的方案考量
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-26
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deleteOAAI
deleteMaria Fuller; Xinying Hong; Michael H. Gelb
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Clinical and sociodemographic characterization of acute hepatic porphyria patients in the first Colombian registry急性肝性卟啉症患者临床和社会人口学特征的首次哥伦比亚登记研究
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-24
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deleteJosé Rojas-Suárez; Mónica Murillo Ortiz; Fernando Arnedo Arteaga; Leydis Lora-Lián; Jose Santacruz-Arias; María Vargas; Rianna Muñoz-Fuenmayor; Javier Polo-Diaz; Julián Ramírez-Cheyne; Robert Desnick
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Bone mineral density in children and adults with classic galactosemia经典半乳糖血症儿童和成人中的骨矿物质密度
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-22
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PREAI
deleteNicole H. Smith; Olivia S. Garrett; Yuhan Wu; Jessica B. Spencer; Shanlee M. Davis; Judith L. Fridovich-Keil
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Measurement of galactose-1-phosphate in dried blood spots by LC-MS/MS: method characteristics and therapeutic range通过LC-MS/MS法测定干血斑中的半乳糖-1-磷酸：方法特性与治疗范围
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-19
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PREAI
deleteNicholas A. Kent; Mark T. Bolster; Matthew J. Schultz; Dietrich Matern; Patricia L. Hall
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Biotin-dependent carboxylases and related disorders: Comparative mechanisms and therapeutic advances生物素依赖性羧化酶及相关疾病：比较机制与治疗进展
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-18
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PREAI
deleteShuang Tan; Cunshuo Yu; Xiaoqing Li; Suhong Zhu; You Wang
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Letter: Sapropterin responsiveness testing in phenylketonuria: Unresolved questions on baseline phenylalanine and phenylalanine measurement matrix致编辑：苯丙酮尿症中沙普罗替林反应性测试：关于基线苯丙氨酸和苯丙氨酸测量基质尚未解决的问题
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-17
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PREAI
deleteEgidio Candela; Rita Ortolano; Elisa Bortolamedi; Federico Baronio; Giacomo Biasucci
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Clinical and biochemical footprints of inherited disorders of heme synthesis and porphyrias: Insights from the IEMbase and dyadic nomenclature遗传性血红素合成障碍和卟啉病的临床与生化特征：来自IEMbase和二元命名法的见解
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-17
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deleteJasmin Barman-Aksözen; Carlos R. Ferreira; Nenad Blau
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The psychosocial impact of erythropoietic protoporphyria in childhood: a guide for parents儿童红细胞生成性原卟啉病的心理社会影响：家长指南
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-16
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deleteKaleb Gjestson; Madeleine McGinty; Lacey R. Williams; Craig Leppert; Kristen Wheeden; Hetanshi Naik
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Breastfeeding infants with inherited metabolic disorders: review of current strategies and practical recommendations to overcome challenges为患有遗传代谢病的婴儿进行母乳喂养：当前策略的综述及克服挑战的实用建议
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-11
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deleteAlexander Höller; Fatma Ilgaz; Cyril Marsaux; Sandra Banta-Wright; Turgay Coşkun; Marjorie Dixon; Monika Jörg-Streller; Camille Newby; Rani Singh; Bernd Stahl; Isidro Vitoria-Miñana; Annemiek van Wegberg; Willie Woestenenk; Anita MacDonald; Daniela Karall
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A quantitative disorder–phenotype atlas of inherited metabolic disorders reveals shared symptom spaces and group-specific hotspots一种定量遗传代谢病表型图谱揭示了共享症状空间和群体特异性热点
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-08
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deleteNenad Blau; Jerry Vockley; Carlos R. Ferreira
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The burden of an ultra-rare inherited skin disorder: Congenital erythropoietic porphyria超罕见遗传性皮肤病的负担：先天性红细胞生成性卟啉症
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-07
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deleteHetanshi Naik; Sarah D. Huang; Lacey R. Williams; Kristen Wheeden; Angelika L. Erwin
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A prospective, longitudinal, natural history study of neurological disease trajectory in children with late-infantile or juvenile-onset GM1 gangliosidosis or GM2 gangliosidoses: the PRONTO study一项前瞻性、纵向、自然病史研究：探究儿童晚期婴儿型或青少年型GM1神经节苷脂贮积症或GM2神经节苷脂贮积症中的神经疾病轨迹——PRONTO研究
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-07
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PREAI
deleteLaura López de Frutos; Andreas Hahn; Radhika Dhamija; Bénédicte Héron; Alexander Fay; Susanne A. Schneider; Aurélie Bourchany; Lara Cirnigliaro; Célia Hoebeke; Daniel Almeida do Valle; Anna Ardissone; Spyros Batzios; Maurizio Scarpa; Christian Freitag; Roberto Giugliani
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Corrigendum to ‘FGF21 elevation is a biomarker of citrin deficiency and its metabolic dysregulation in pediatric patients’ [Mol. Genet. Metab., Volume 149, Issue 3, November 2026, 110262]勘误：FGF21升高是儿童患者中Citrin缺乏及其代谢失调的生物标志物 [Mol. Genet. Metab., Volume 149, Issue 3, November 2026, 110262]
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-05
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deleteJiaqi Liang; Vanessa Chu; Emily Che; Anne Kwok; Kiran Belaramani; Helen Wu; Terry Law; Yvonne Kwok; Carmen Yeung; Chloe Mak; Sheila Wong; Shirley Lam; Fion Yu; Ho-Ming Luk; Nike Lau; Felix Wong; Charles Brenner; Cheuk-Wing Fung
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Clinical characteristics and management of patients with mucopolysaccharidosis II in the United States enrolled in the hunter outcome survey美国参与亨特结局调查的黏多糖贮积症II型患者的临床特征与管理
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-05
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deleteBarbara K. Burton; Can Ficicioglu; Helio Pedro; Julie B. Eisengart; Jaco Botha; Ravi Pathak; Ian Robinson; Ekaterina Wright; Joseph Muenzer
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Masculinizing hormone therapy in latent AIP. First case in Argentina隐匿性AIP中的男性化激素治疗。阿根廷首例病例
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-10-02
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PREAI
deleteLaura Varela; Patricia San Martín; Alejandra Caballero; Marcelo Guolo; Ana María Buzaleh; Victoria Parera; Viviana Melito
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Longitudinal audiological findings in mild to moderate Mucopolysaccharidosis type II and potential impact of inner ear dysfunction following blood-brain barrier-penetrating enzyme therapy轻度至中度II型黏多糖贮积症纵向听力学表现及血脑屏障穿透性酶治疗后内耳功能障碍的潜在影响
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-29
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PREAI
deleteAyaka Kise; Tomotaka Shimura; Sei Kobayashi; Tetsumin So; Motomichi Kosuga; Noriko Morimoto
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Porphyria cutanea tarda: cutaneous manifestations and management迟发性皮肤卟啉病：皮肤表现与管理
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-28
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deleteLina Rebeiz; Lenore K. Yalom; Amy K. Yeung; Rebecca K. Leaf
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Gallbladder involvement in metachromatic leukodystrophy: a systematic review and comparison of American and European surveillance recommendations溶酶体酸性脂肪酶缺乏症中胆囊受累：一项系统综述及美欧监测指南的比较
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-28
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deletePatryk Lipiński; Agnieszka Skarżyńska; Sabina Więcek; Justyna Paprocka
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Empowering children and young people with Erythropoietic Protoporphyria (EPP)/X-linked Erythropoietic Protoporphyria (XLP): Outcomes of attending a disease-specific residential camp为患红细胞生成性原卟啉病（EPP）/X连锁红细胞生成性原卟啉病（XLP）的儿童和青少年赋能：参加特定疾病住宿营的成果
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-28
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deleteVictoria A. McGuire; Samuel Morrison; Georgia Newman; Sue Burrell; Claire Jarvis; Liz Gill
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Hyperinflammatory syndromes in primary mitochondrial disease: A three-center case series and focused review原发性线粒体疾病中的高炎症综合征：一项三中心病例系列和重点综述
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-26
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deleteDan R. Brooks; Eliza Gordon-Lipkin; Ibrahim Elsharkawi; Shannon Kruk; Madeleine Hesselgesser; Christine Eng; Weimin Bi; Lisa Emrick; Kristen S. Fisher; Peter J. McGuire; Fernando Scaglia
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