Journal of Inherited Metabolic Disease最新文献

{"title":"Are Inherited Metabolic Disorders More Common and Less Predictable Than We Thought?","authors":"Nina B. Gold,&nbsp;Alanna Strong,&nbsp;Harini Somanchi,&nbsp;Jessica Gold","doi":"10.1002/jimd.70094","DOIUrl":"10.1002/jimd.70094","url":null,"abstract":"<div>\u0000 \u0000 <p>“Genotype-first” approaches, studies that apply genomic sequencing in unselected cohorts of apparently healthy adults or infants, have begun to upend traditional notions about the prevalence and penetrance of inherited metabolic disorders. In this commentary, we discuss how large-scale genomic data from healthy newborns and biobanks of adult research participants, along with clinical testing such as reproductive carrier screening and secondary findings from exome and genome sequencing, have revealed a new category of “genotype positive” cases of IMDs that were previously unrecognized by both clinicians and public health programs. In particular, the prevalence and penetrance of variants linked to IMD have important implications for evaluating the utility of genomic sequencing as a public health screening tool in the newborn period. Although genomic sequencing may allow us to detect treatable disease earlier and identify individuals at risk before irreversible damage occurs, realizing its promise as a screening tool will require an acknowledgment that more genomic data does not always equate to clearer decisions and that disease-associated variants may not universally require intervention.</p>\u0000 </div>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 6","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis","authors":"Anna T. Reischl-Hajiabadi,&nbsp;Sven F. Garbade,&nbsp;Florian Gleich,&nbsp;Elena Schnabel-Besson,&nbsp;Roland Posset,&nbsp;Matthias Zielonka,&nbsp;Georg F. Hoffmann,&nbsp;Stefan Kölker,&nbsp;Ulrike Mütze","doi":"10.1002/jimd.70090","DOIUrl":"https://doi.org/10.1002/jimd.70090","url":null,"abstract":"<p>Classic isovaleric aciduria (cIVA) is a rare inherited metabolic disorder characterized by recurrent life-threatening metabolic decompensations and neurocognitive impairment in untreated patients. This meta-analysis aims to assess the impact of early diagnosis by newborn screening (NBS) on mortality and neurocognitive outcome. A systematic literature search for articles published until 2022 was conducted following PRISMA protocol guidelines. We investigated effects on clinical outcomes and survival, analyzing outcome parameters using meta-analytical measures and estimating effect sizes with a random-effects model. Overall, 20 studies were included, reporting on 240 individuals with cIVA. Individuals identified by NBS presented with a lower frequency of neurological symptoms (13.0% vs. 44.9%; <i>p</i> = 0.0040) and developmental delay (6.1% vs. 51.2%; <i>p</i> &lt; 0.0001), and had a lower mortality rate (1.1% vs. 10.9%; <i>p</i> = 0.0320). The quality of healthcare systems did not have a measurable impact on neurocognitive outcome and mortality. Despite the beneficial effect of NBS on clinical outcome and mortality, it could not reliably prevent the manifestation of neonatal decompensation in all individuals with cIVA identified by NBS. Early diagnosis through NBS is essential for the timely initiation of therapy and for improving outcomes and survival rates in individuals with cIVA.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 6","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jimd.70090","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145135590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches","authors":"Matthew J. Schultz,&nbsp;Patricia L. Hall,&nbsp;Gisele Bentz Pino,&nbsp;Amy L. White,&nbsp;Dawn S. Peck,&nbsp;April L. Studinski,&nbsp;Jenny M. Thies,&nbsp;Dimitar Gavrilov,&nbsp;Devin Oglesbee,&nbsp;Silvia Tortorelli,&nbsp;Dietrich Matern","doi":"10.1002/jimd.70093","DOIUrl":"https://doi.org/10.1002/jimd.70093","url":null,"abstract":"<div>\u0000 \u0000 <p>More than 60 lysosomal disorders have been described to date, and continued advancements in molecular (i.e., next generation sequencing) and biochemical (i.e., mass spectrometry) genetic testing will increase this number. In parallel, the same advancements have improved laboratory efficiency by allowing the simultaneous measurement of multiple enzyme activities and/or biomarker concentrations, as well as the rapid generation of genomic information with fewer tests. Here, we provide an overview of currently available biochemical and molecular genetic tests, and how they and their correlation to each other can support screening, diagnosis, and monitoring of patients with lysosomal disorders.</p>\u0000 </div>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 6","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145135592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease","authors":"Shoshana Revel-Vilk,&nbsp;Maayan Tiomkin,&nbsp;Dafna Frydman,&nbsp;Hanan Adler,&nbsp;Shea Cornick,&nbsp;Aya Abramov,&nbsp;Ari Zimran,&nbsp;Ehud Lebel,&nbsp;David Strich","doi":"10.1002/jimd.70091","DOIUrl":"https://doi.org/10.1002/jimd.70091","url":null,"abstract":"<div>\u0000 \u0000 <p>Gaucher disease (GD), caused by variants in the <i>GBA1</i> gene, is manifested by the accumulation of glucosylceramide within macrophages in visceral organs and bone marrow and can lead to significant bone disease. The aim of this study was to assess longitudinal bone mineral density (BMD) changes in children with GD and the impact of enzyme replacement therapy (ERT). The study included children and adolescents (5–20 years) with GD who had at least two dual-energy x-ray absorptiometry (DXA) scans. These scans, done every 2–3 years with a Hologic Discovery densitometer, were part of regular clinic visits. Whole body less head (WBLH), femoral neck, lumbar spine, and total hip BMD <i>Z</i> scores were adjusted for height-for-age <i>Z</i> score (HAZ). Children were grouped by ERT exposure: untreated, treated throughout, or initiated during follow-up. Low BMD at baseline was more common in children who initiated ERT during follow-up. By study end, BMD status was comparable across all groups. WBLH BMD improved in 52/79, significantly more often than at the femoral neck (18/79), lumbar spine (18/79), or hip (20/79), with no difference between treatment groups. Longitudinal BMD changes were unrelated to sex, <i>GBA1</i> genotype, follow-up duration, calcium, phosphorus, alkaline phosphatase, or lyso-Gb1 levels. In conclusion, with proper clinical selection, some children with GD can be safely monitored without ERT. Adjustment to HAZ and focusing on the WBLH for clinical decision-making in children with GD is important. Continued monitoring into adulthood is essential to clarify long-term skeletal outcomes and confirm the utility of site-specific monitoring in childhood.</p>\u0000 </div>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 5","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145111245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines","authors":"Allysa M. Kuypers,&nbsp;Anibh M. Das,&nbsp;Arianna Maiorana,&nbsp;M. Rebecca Heiner-Fokkema,&nbsp;Francjan J. van Spronsen,&nbsp;The TT1 MetabERN Professional Collaboration Group","doi":"10.1002/jimd.70089","DOIUrl":"10.1002/jimd.70089","url":null,"abstract":"<p>The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment of patients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals have shifted from emergency treatment to long-term care. To evaluate the risk of developing complications with aging, due to TT1 itself or its treatment, long-term follow-up is essential. In 2014, an overview of TT1 management practices in Europe was published. Within the Metabolic European Reference Network's subnetwork on amino-and-organic acidurias (MetabERN-AOA), we considered it important to give an update on current TT1 management practices in Europe. An online survey study was performed among members of the MetabERN-AOA subnetwork, and participants of a workshop on TT1 at the European Metabolic Group Meeting of Nutricia. Findings were compared to existing data from the aforementioned publication from 2014 and previously published recommendations. Thirty-two centers (16 European countries) completed the survey. Both consistencies and inconsistencies in TT1 management were seen. Inconsistencies were observed in the frequency and methods of follow-up, dosing of NTBC, and target ranges of biochemical markers. Compared to 2014, key differences included an increased number of patients detected by newborn screening, lower NTBC dosing, and a shift from interest in mainly hepatic to hepatic and neurocognitive outcomes. These results align with trends seen in TT1 recommendations over the years. In addition to numerous consistencies, many aspects in TT1 management still differ widely across Europe, suggesting the need for uniform guidance in clinical management beyond existing recommendations.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 5","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12445258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol","authors":"Maria Veiga-da-Cunha,&nbsp;Lila Gannoun,&nbsp;Joseph Dewulf,&nbsp;Emile Van Schaftingen","doi":"10.1002/jimd.70085","DOIUrl":"10.1002/jimd.70085","url":null,"abstract":"<p>Neutropenia in Glycogen Storage Disease Type Ib (GSDIb) and G6PC3 deficiency results from defects in metabolite repair, leading to the accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P). Treatment currently relies on inhibitors of SGLT2, the renal sodium-glucose co-transporter, which indirectly enhances urinary excretion of 1,5-anhydroglucitol (1,5-AG), the precursor of the toxic 1,5-AG6P that accumulates in neutrophils and is at the origin of these patients' neutropenia. In this context, a detailed understanding of the formation, intestinal absorption, renal reabsorption, and metabolism of 1,5-AG is essential. Here, we review the current knowledge of these mechanisms, their role in the pathophysiology of 1,5-AG6P–related neutropenia, and explore potential strategies to improve treatment outcomes.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 5","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12441222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands","authors":"Ryan Aukes,&nbsp;Monique Albersen,&nbsp;Anita Boelen,&nbsp;Leo A. J. Kluijtmans,&nbsp;Wouter F. Visser,&nbsp;Maaike C. de Vries,&nbsp;Annet M. Bosch,&nbsp;the C5-OH NBS Working Group","doi":"10.1002/jimd.70088","DOIUrl":"https://doi.org/10.1002/jimd.70088","url":null,"abstract":"<p>In 2007, the Dutch newborn screening (NBS) program was expanded to include C5-OH as a marker to screen for three inborn errors of metabolism (IEMs): 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD), 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) and holocarboxylase synthetase deficiency (HLCSD). This study evaluates the effectiveness of C5-OH as an NBS marker by analyzing data from neonates screened in the Dutch NBS program from 2007 to 2023 and by reviewing the literature on various IEMs detected by an elevated NBS C5-OH concentration worldwide. Of the 126 neonates referred on the basis of elevated C5-OH concentrations in the Netherlands, 46 were true positive cases. No missed cases in the Netherlands have been reported so far, resulting in a positive predictive value of 38.3% and a negative predictive value of 100%. Strikingly, there was notable overlap between C5-OH concentrations of true and false positive cases. The systematic review included 58 articles and showed that C5-OH concentrations of patients with different IEMs reported in the literature were insufficiently distinctive to differentiate between these diseases. While C5-OH can be used to detect patients with 3-MCCD, HCLSD, and HMGCLD, its value is limited by the overlap of C5-OH concentrations between affected and unaffected neonates and among patients with different diseases. This emphasizes the need for improvement of the screening strategy and potentially the use of additional markers to increase its specificity.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 5","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jimd.70088","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145037567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency","authors":"Maurizio Scarpa,&nbsp;George A. Diaz,&nbsp;Roberto Giugliani,&nbsp;Simon A. Jones,&nbsp;Eugen Mengel,&nbsp;Nathalie Guffon,&nbsp;Peter Witters,&nbsp;Jaya Ganesh,&nbsp;Nicole M. Armstrong,&nbsp;Shruti Srivastava,&nbsp;Yong Kim","doi":"10.1002/jimd.70086","DOIUrl":"https://doi.org/10.1002/jimd.70086","url":null,"abstract":"<p>Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease characterized by hepatosplenomegaly, pulmonary dysfunction, dyslipidemia, and growth deficits. Olipudase alfa (recombinant-human ASM) is the only treatment for non-central-nervous-system ASMD manifestations in children and adults. An open-label long-term study followed 4 to 8 years of olipudase alfa treatment in 20 children and adolescents with ASMD (baseline age (years) 1.5–17.5). At final assessments, splenomegaly and hepatomegaly were reduced relative to baseline (mean percent decrease in spleen and liver volumes 78% ± 1.2% and 59.8% ± 1.5%, respectively). Baseline splenomegaly was severe (spleen volume &gt; 15 MN [multiples of normal]) or moderate (5–15 MN) (<i>n</i> = 12 and <i>n</i> = 8, respectively) versus mild/absent (&lt; 5 MN) (<i>n</i> = 12) or moderate (<i>n</i> = 8) at final assessment. Baseline hepatomegaly was severe (liver volume &gt; 2.5 MN) (<i>n</i> = 10) or moderate (1.25–2.5 MN) (<i>n</i> = 10) versus mild/absent (&lt; 1.25 MN) (<i>n</i> = 19) or moderate (<i>n</i> = 1) at final assessment. Among nine individuals able to perform assessments, diffusing capacity of the lung for carbon monoxide (DL_CO) impairment was severe (&lt; 40%) (<i>n</i> = 1), moderate (40%–60%) (<i>n</i> = 4), or mild (60%–80%) (<i>n</i> = 4) at baseline versus absent (<i>n</i> = 4), mild (<i>n</i> = 4) or moderate (<i>n</i> = 1) at final assessment. Mean percent increase in DL_CO was 53.7% ± 6.5%. At baseline, 10/20 children had clinical short stature (height <i>Z</i>-scores ≤ − 2) at baseline versus 0/20 at the final assessment. Atherogenic lipid profiles and liver function tests normalized within 2 years and remained stable. Adverse events were mostly mild or moderate, with 4 individuals experiencing 7 serious adverse events, all recovered/resolved. Interpretation: Enzyme replacement therapy with olipudase alfa in children and adolescents with chronic ASMD was well-tolerated with clinically meaningful improvements in multiple disease parameters.</p><p><b>Trial Registration:</b> NCT02004704.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 5","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jimd.70086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145038429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to “Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies”","authors":"","doi":"10.1002/jimd.70087","DOIUrl":"10.1002/jimd.70087","url":null,"abstract":"<p> <span>McNutt, M.</span>, <span>Rutsch, F.</span>, <span>Russo, R.S.</span>, <span>Gasperini, S.</span>, <span>Batzios, S.</span>, <span>Teles, E.L.</span>, <span>Brassier, A.</span>, <span>Ganesh, J.</span>, <span>Schulze, A.</span>, <span>Enns, G.M.</span>, <span>Rudebeck, M.</span>, <span>“Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies</span>.” <i>Journal of Inherited Metabolic Disease</i> <span>48</span>, no. <span>4</span> (<span>2025</span>): e70066. https://doi.org/10.1002/jimd.70066.</p><p>In the Abstract section of this article, the wording incorrectly stated that 6MWT and 2MWT “improved to” certain distances. The correct description should read “improved by,” as the values represent changes from baseline rather than final absolute distances. Similarly, in the Results section, walk test distances were changes from baseline, that is improvements, not final absolute distances. These wording changes do not alter the study's conclusions.</p><p>We apologize for this error.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 5","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jimd.70087","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency","authors":"B. C. Schwahn,&nbsp;R. Sinha,&nbsp;J. A. M. Wright,&nbsp;J. Pavaine","doi":"10.1002/jimd.70079","DOIUrl":"https://doi.org/10.1002/jimd.70079","url":null,"abstract":"<p>Molybdenum cofactor deficiency (MoCD) is a rare differential diagnosis of neonatal hypoxic ischemic encephalopathy (HIE) with considerable variation in presentation and treatment outcomes. The temporospatial evolution of brain MRI appearances has not been well described. We systematically evaluated 35 MRI brain scans of 13 patients with neonatal MoCD (7 type A, 6 type B) to characterize brain abnormalities arising from exposure to toxicity related to sulfite accumulation and to evaluate changes in response to cPMP treatment in 6 children with MoCD type A. All cases showed evidence of chronic toxicity with developmental disruption. We identified a disease-specific pattern of acute and chronic brain injury, distinct from HIE. White matter edema, as the earliest sign of sulfite-related toxicity, indicates a reversible disease stage. The presence of restricted diffusion in the context of MoCD signifies irreversible brain injury and a poor neurological prognosis, irrespective of subsequent biochemical correction upon cPMP treatment. This is the largest neuroimaging study of children with MoCD and the first longitudinal study to examine MR imaging changes in MoCD type A under cPMP substitution. Neuroimaging can identify diagnostic and prognostic features with relevance for treatment decisions and for the evaluation of the effectiveness of treatment attempts.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 5","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jimd.70079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144923785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}