Molecular genetics and metabolism最新文献

{"title":"Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey","authors":"Barbara K. Burton ,&nbsp;Nathalie Guffon ,&nbsp;Jane Roberts ,&nbsp;Ans T. van der Ploeg ,&nbsp;Simon A. Jones ,&nbsp;Jennifer Audi ,&nbsp;Jaco Botha ,&nbsp;David A.H. Whiteman ,&nbsp;Roberto Giugliani ,&nbsp;Joseph Muenzer","doi":"10.1016/j.ymgme.2026.109734","DOIUrl":"10.1016/j.ymgme.2026.109734","url":null,"abstract":"<div><div>The Hunter Outcome Survey (HOS) collected global, real-world data on the natural history of mucopolysaccharidosis II and its treatment with intravenous idursulfase. For eligible patients, home therapy offers a convenient alternative to in-clinic therapy. Using data in HOS as of January 2023, we provide an updated assessment of the safety/tolerability profile of home therapy with idursulfase. The analysis population comprised 333 patients who had received at least one home infusion and 708 patients who had never received home therapy. Median (10th percentile [P10], 90th percentile [P90]) age at home therapy start was 8.9 (2.9, 21.1) years. Median (P10, P90) ages at latest visit were 15.5 (7.7, 29.3) years in the home therapy group and 13.9 (5.2, 29.0) years in the no home therapy group. Patients received a median (P10, P90) of 6.0 (0.8, 12.0) years of home infusions after 1.8 (0.3, 8.7) years of in-clinic therapy, and these timings varied by geographic region. The infusion-related reaction (IRR) rate was 0.11/patient-year during home therapy, 0.13/patient-year for the in-clinic period for the same patients (first 6 months excluded), and 0.05/patient-year for patients who never received home therapy (first 6 months excluded). More than 60% of IRRs were categorized as mild. The adverse event (AE) rate was lower during home therapy (0.59 AEs/patient-year) than during the in-clinic period for the same patients (0.86 AEs/patient-year). Among patients who never received home therapy, the rate was 0.60 AEs/patient-year. Deaths occurred at a rate of 2.17 deaths/100 patient-years of home therapy and 3.60 deaths/100 patient-years among patients never treated with home therapy. No deaths were deemed related to treatment. The rate of missed infusions was 0.52/year during the home therapy period compared with 1.42/year during the in-clinic period for the same patients and 0.57/year for patients who never received home therapy. Our data indicate a similar safety/tolerability profile for intravenous idursulfase administered at home and in clinic in patients with mucopolysaccharidosis II.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 3","pages":"Article 109734"},"PeriodicalIF":3.5,"publicationDate":"2026-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers","authors":"Rodrigo T. Starosta ,&nbsp;Miao He ,&nbsp;Sara Gracie ,&nbsp;Janell Kierstein ,&nbsp;Christian Thiel ,&nbsp;Nastassja Himmelreich ,&nbsp;Yupeng Liu ,&nbsp;Wenyue Zhang ,&nbsp;Andrew C. Edmondson ,&nbsp;Naomi Meeks ,&nbsp;Austin Larson ,&nbsp;Johan L.K. Van Hove ,&nbsp;Aaina Kochhar","doi":"10.1016/j.ymgme.2026.109727","DOIUrl":"10.1016/j.ymgme.2026.109727","url":null,"abstract":"<div><div>Fucosylation disorders are rare types of congenital disorders of glycosylation (CDG), the most common being SLC35C1-CDG, which is classically described as a leukocyte adhesion deficiency (hence the previous name of “leukocyte adhesion deficiency type II”) with dysmorphic features, short stature, and moderate-to-severe developmental and intellectual disabilities. In more recent years, several cases have been described of individuals with bi-allelic <em>SLC35C1</em> variants and biochemical proof of hypofucosylation who had short stature, dysmorphic features, and intellectual disability, but no hematological abnormalities. In this article, we report a patient with growth faltering, neuroirritability, nystagmus, developmental delays, microcephaly, dysmorphic features, and hypogammaglobulinemia G. Biochemical investigations including serum N-glycan profiling, fucosylation-focused whole serum glycoprotein profiling, and serum lectin blots, all of which showed significant global hypofucosylation. Exome sequencing revealed a single likely pathogenic variant, <em>SLC35C1</em> (NM_018389.4):c.503_505delTCT, p.(Phe168del), which was inherited from an unaffected mother. Whole genome sequencing with manual review of raw data did not reveal any second pathogenic variants; <em>SLC35C1</em> mRNA sequencing was negative for changes in the second allele or allelic imbalance. The patient was started on L-fucose supplementation, with subsequent improvements in weight and head circumference, normalization of IgG levels, and remarkable developmental catch-up. Biochemically, there was an increase in abundance of previously decreased fucosylated glycan species in serum, especially Fuc₁GlcNAc₂Man₃ (a glycan that is known to be enriched in neutrophils). In summary, we present here further evidence for the role of L-fucose supplementation in treating hypofucosylation disorders and suggest that IgG and fucosylated glycan species may be useful as biomarkers in this scenario, although further research is needed to validate them as such. It is likely that the early introduction of L-fucose in this patient may have led to the excellent developmental outcomes observed.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 3","pages":"Article 109727"},"PeriodicalIF":3.5,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145966421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence","authors":"Stephanie Newman ,&nbsp;Srinitya Gannavarapu ,&nbsp;Andrea C. Yu ,&nbsp;Suzanne Ratko ,&nbsp;Natalya Karp ,&nbsp;Melanie Napier ,&nbsp;Sue MacLean ,&nbsp;Ranjit Singarayer ,&nbsp;C.A. Rupar ,&nbsp;Chitra Prasad","doi":"10.1016/j.ymgme.2026.109729","DOIUrl":"10.1016/j.ymgme.2026.109729","url":null,"abstract":"<div><div>Clinical care and management of inborn errors of metabolism (IEM) are lifelong, complex, and resource-intensive for the healthcare team, patient, and families. A cohort of individuals with IEM who in addition have gender incongruence (GI) presents a unique challenge of patient care in current practices. Here, we discuss four patients with different IEM (phenylketonuria (PKU), 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD), ornithine transcarbamylase (OTC) deficiency that presented with GI either in their adolescence or adulthood. We review their IEM management and evolving expression of GI as we highlight the influence of various clinical and psychosocial stressors, including social acceptance and self-esteem. Significant research on the comorbidity between IEM and GI has not yet received attention in the literature. Here we aim to explore this underrepresented topic to encourage expansion of knowledge and how to navigate the complex management and support to individuals with IEM experiencing GI.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 3","pages":"Article 109729"},"PeriodicalIF":3.5,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145966488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disease or non-disease - about the identification of metabolic conditions that require no treatment","authors":"Jörn Oliver Sass ,&nbsp;Johannes Häberle","doi":"10.1016/j.ymgme.2026.109728","DOIUrl":"10.1016/j.ymgme.2026.109728","url":null,"abstract":"<div><div>Many inborn errors of metabolism (IEM) fulfil clinically relevant criteria and therefore are considered metabolic diseases. Typically, these conditions are due to impaired biosynthesis or breakdown of substances within specific pathways. However, there is also a growing number of metabolic conditions that are understood to represent merely biochemical phenotypes but are not linked to typical clinical findings and do not require treatment. The distinction between disease and non-disease is often not straightforward, but may have several nuances as well as overlaps, and may even be impossible to definitely classify as in many instances there is a continuum from non-disease to disease rather than categories. This article aims for deeper insights into the characteristics of conditions under discussion in this regard.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 3","pages":"Article 109728"},"PeriodicalIF":3.5,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145928422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metformin therapy to facilitate weight loss in adults with classic maple syrup urine disease","authors":"Ashlin Rodrigues ,&nbsp;Erin Sweigert ,&nbsp;Donna Robinson ,&nbsp;Makenna Kregel ,&nbsp;Joelle Williamson ,&nbsp;Alanna Koehler ,&nbsp;Sean Schreckengast ,&nbsp;Cara Forry ,&nbsp;KaLynn Loeven ,&nbsp;Erik Puffenberger ,&nbsp;Alexis McVey ,&nbsp;Christine Hendrickson ,&nbsp;Andrea Patel ,&nbsp;Anne Thomas ,&nbsp;Sarah Thomas ,&nbsp;Karlla W. Brigatti ,&nbsp;Kevin Strauss ,&nbsp;Grace Loudon Meier","doi":"10.1016/j.ymgme.2026.109730","DOIUrl":"10.1016/j.ymgme.2026.109730","url":null,"abstract":"<div><div>Surplus calories are used to prevent protein catabolism in patients with maple syrup urine disease (MSUD) but can also lead to obesity and its related complications. At present, there are no evidence-based guidelines to inform weight loss strategies for patients with inborn errors of metabolism. Obese MSUD patients often resist weight loss due to the fear of metabolic decompensation, and their dietary options are limited by dependence on medical foods with fixed nutritional composition. We examined the anthropometric and biochemical effects of metformin in nine adults with severe (classic) MSUD who were instructed to reduce their calorie intake from medical food by 10%. Eight participants (67% female) completed the 52-week study; one withdrew following elective liver transplantation. Baseline median age, body mass index (BMI), and glycosylated hemoglobin (HgbA1C) were 33.8 years (IQR 25.3–41.6), 38.3 kg/m² (IQR 31.6–42.2), and 5.3% (IQR 5.0–5.6), respectively. We titrated the daily metformin dose to a median of 2000 mg (IQR 1000–2000) by week 25, at which time seven (88%) participants successfully reduced total calories from medical food by 10%. Metformin was generally well tolerated. Diarrhea was the most common treatment-related complication, affecting 56% of participants, and limited dose escalation in two (22%) of them. No participant achieved the primary outcome of a &gt; 10% BMI change. However, metformin therapy allowed for modest and significant reductions in weight (−2.8%, <em>p</em> = 0.023), BMI (−2.8 kg/m2, <em>p</em> = 0.016), and calories from medical food without altering plasma leucine concentrations or the proportion of dietary protein from intact sources. Serum triglycerides, high-density lipoprotein, and HgbA1C did not change over the study period. Based on these clinical observations, we conclude that classic MSUD patients can safely use metformin to aid weight loss without triggering metabolic instability, and may therefore tolerate more aggressive weight loss strategies.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 3","pages":"Article 109730"},"PeriodicalIF":3.5,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146019156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes","authors":"Steven H. Lang ,&nbsp;Naiga Cottingham ,&nbsp;Colleen Donnelly ,&nbsp;Sarah Risen ,&nbsp;Rossana Malatesta Muncher ,&nbsp;Eileen D. Brewer ,&nbsp;Jeffery M. Saland ,&nbsp;Corrine Benchimol ,&nbsp;Fernando Scaglia ,&nbsp;Jaya Ganesh","doi":"10.1016/j.ymgme.2026.109731","DOIUrl":"10.1016/j.ymgme.2026.109731","url":null,"abstract":"<div><div>Single large-scale mitochondrial DNA deletion syndromes (SLSMDS) are a clinical continuum of three classic discrete clinical syndromes: Pearson marrow-pancreas syndrome, Kearns-Sayre syndrome, and chronic progressive ophthalmoplegia. Kidney manifestations, including chronic kidney disease with progression kidney failure has emerged as significant cause of morbidity and mortality in SLSMDS. Despite this recognition, reports of kidney transplantation in this population are limited. Here, we describe outcomes of kidney transplantation in three patients with SLSMDS and kidney failure over a 1–2.5-year follow-up period. All three patients had multisystem involvement at the time of transplantation. In all three patients, surgery was uncomplicated without evidence of acute metabolic decompensation in the perioperative period and standard immunosuppressive protocols were well tolerated. One patient developed post-transplant lymphoproliferative disease at 9 months status-post transplant which was ultimately fatal. The two surviving patients remain with stable graft function and functional quality of life at 1- and 3.5-years post-transplant.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 3","pages":"Article 109731"},"PeriodicalIF":3.5,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146078683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SWATH-MS reveals tissue-specific proteomic changes in a Leigh syndrome mouse model","authors":"Sibonelo Glen Khumalo ,&nbsp;Previn Naicker ,&nbsp;Jeremie Zander Lindeque ,&nbsp;Marianne Venter","doi":"10.1016/j.ymgme.2025.109715","DOIUrl":"10.1016/j.ymgme.2025.109715","url":null,"abstract":"<div><div>Mutations in the <em>Ndufs4</em> gene encoding the accessory subunit of complex I (CI) of the mitochondrial oxidative phosphorylation (OXPHOS) system, are the most common causes of Leigh Syndrome (LS). LS is a severe infantile neurodegenerative disorder characterised by various clinical phenotypes ranging from ataxia, cardiomyopathy, swallowing difficulties, visual problems, psychomotor regression to fatal respiratory failure. The mechanistic processes contributing to the onset and progression of these clinical manifestations remain poorly understood.</div><div>This study investigates tissue-specific proteomic changes in a mouse model of LS using quantitative proteomics as a hypothesis-generating technique. Six distinct tissues, namely three brain regions (brainstem, cerebellum, olfactory bulb), heart, kidney, and liver, were collected from the LS mouse model (<em>Ndufs4</em> KO mice) and compared to wild type (WT) controls using SWATH-MS analysis as a data acquisition method. Functional enrichment analysis revealed distinct tissue-specific cellular responses which include a shift toward amino acid metabolism in the heart, increased mitochondrial translation in the kidney, and alterations in phase II detoxification pathways in the liver. Our results unravel candidate mechanisms for tissue-specific vulnerability and highlight the regulation of PTEN gene transcription as potential driver of neurodegeneration. These findings provide data-driven hypotheses for tissue-specific vulnerability in LS, highlighting potential mechanisms and therapeutic targets.</div><div>This study established a foundation for future hypothesis-driven research into the tissue-specific pathophysiology of mitochondrial disease.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 3","pages":"Article 109715"},"PeriodicalIF":3.5,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145928520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of untargeted metabolomics for the study of pediatric neurometabolic disorders: A review","authors":"Cathrin Lytomt Salvador ,&nbsp;Paula Juliana Rodríguez-Soler ,&nbsp;Cristian Irela Aranda ,&nbsp;Aruna Gowdra ,&nbsp;Helge Rootwelt ,&nbsp;Alfonso de Oyarzábal Sanz","doi":"10.1016/j.ymgme.2025.109711","DOIUrl":"10.1016/j.ymgme.2025.109711","url":null,"abstract":"<div><h3>Background</h3><div>The use of omics technologies in the field of neurometabolic disorders (NMD) continues to grow each year. Genomics is most widely used, but metabolomics is a powerful, complementary tool emerging in this field. With this review, we aim to assess the usefulness of untargeted metabolomics in the identification of new biomarkers in pediatric NMD for understanding the pathophysiology and for diagnostics and therapeutic strategies.</div></div><div><h3>Methods</h3><div>We conducted a review of the literature of untargeted metabolomics used for the study of NMD with principal manifestations in pediatric age, analyzing a total of 168 published works. Of those, only 47 fulfilled eligibility criteria and were reviewed as full text. The following variables and outcomes were assessed: type of study, disease, sample material, number of patients involved, choice of controls, methods used for untargeted metabolomics, principal metabolic findings, and pathophysiological/clinical implications.</div></div><div><h3>Results</h3><div>Small molecule disorders were the predominant group, accounting for 47 % of the NMD studies. Almost all the studies (93 %) were based on MS-technology, confirming its technical versatility and superior performance for metabolomic investigations. The most impactful and frequent findings were the detection of new biomarkers (55 %) and recognition of new pathophysiological mechanisms in known diseases (62 %).</div></div><div><h3>Conclusions</h3><div>Untargeted metabolomics is an unbiased and powerful tool in the field of NMD. Further technical improvements, larger databases and reduced analytical costs, combined with worldwide collaboration and standardization regarding preanalytical and analytical aspects, is expected to make this a cost-effective supplement to targeted analyses in the field of NMD. Are we finally entering the metabolomics era?</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 1","pages":"Article 109711"},"PeriodicalIF":3.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145884479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dietetic guidance for nutritional management of people with phenylketonuria receiving sepiapterin","authors":"Anita MacDonald ,&nbsp;Kirsten Ahring ,&nbsp;Alexa Bledsoe ,&nbsp;Hiroki Fujimoto ,&nbsp;Sara Giorda ,&nbsp;Christian Kogelmann ,&nbsp;Jessica Kopesky ,&nbsp;Laura Nagy ,&nbsp;Sara O'Neill ,&nbsp;Alex Pinto ,&nbsp;Soraia Poloni ,&nbsp;Paige Roberts ,&nbsp;Annemiek M.J. van Wegberg ,&nbsp;Suzanne Hollander","doi":"10.1016/j.ymgme.2025.109705","DOIUrl":"10.1016/j.ymgme.2025.109705","url":null,"abstract":"<div><h3>Background/Objectives</h3><div>Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism. If untreated, elevated blood phenylalanine (Phe) levels lead to neurological and behavioral impairments. Phe levels can be managed through a lifelong Phe-restricted diet; however, this can be challenging to maintain. Sepiapterin is an adjunct therapy for PKU that has shown efficacy in reducing blood Phe levels in both tetrahydrobiopterin (BH₄)-responsive and BH₄-non-responsive people with PKU in clinical trials. Practical guidance is needed for dietitians and other healthcare professionals supporting the dietary management of people with PKU who are initiating or receiving sepiapterin.</div></div><div><h3>Methods</h3><div>A group of international dietitians participated in a questionnaire, virtual meeting, and series of online sessions to develop globally applicable consensus recommendations to support individuals with PKU who are initiating or receiving sepiapterin treatment.</div></div><div><h3>Results</h3><div>The expert consensus group has issued 32 recommendations on using sepiapterin in PKU, covering the following topics: preparation, administration, response evaluation, dietary liberalization, protein substitute adjustment, healthy food choices, illness management, and if necessary, treatment cessation. These statements provide a framework to standardize care, clarify therapeutic effectiveness, guide natural protein escalation, reduce low-Phe protein substitutes, and maintain nutritional adequacy. By integrating pharmacological and dietary approaches, the guidance promotes equitable access, supports informed resource allocation, and reinforces the importance of patient-friendly education and ongoing monitoring.</div></div><div><h3>Conclusions</h3><div>This guidance is intended to inform clinical practice and foster consistency in the use of sepiapterin for individuals with PKU. The recommendations should evolve as new scientific evidence and growing clinical experience continue to shape best practice.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 1","pages":"Article 109705"},"PeriodicalIF":3.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145828002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cover 2 / Ed. Board","authors":"","doi":"10.1016/S1096-7192(26)00003-X","DOIUrl":"10.1016/S1096-7192(26)00003-X","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 1","pages":"Article 109720"},"PeriodicalIF":3.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145976912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}