Molecular genetics and metabolism最新文献

{"title":"Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years—Admissions and complications","authors":"Kimberly A. Chapman ,&nbsp;Nicholas Ah Mew ,&nbsp;Nina Mickle ,&nbsp;Danielle Starin ,&nbsp;Erin MacLeod","doi":"10.1016/j.ymgme.2025.109289","DOIUrl":"10.1016/j.ymgme.2025.109289","url":null,"abstract":"<div><h3>Background</h3><div>Propionic acidemia (PA) and methylmalonic acidemia (MMA) are organic acidurias that can present with metabolic acidosis and hyperammonemia, often leading to frequent hospital admission. While recent studies have provided guidelines for management and diagnosis of these conditions, there is a lack of research detailing the frequency and reasons for hospital admission in the first three years of life.</div></div><div><h3>Methods</h3><div>As part of a quality improvement project, data were extracted from medical records of all patients with PA and MMA (born between 2000 and 2024) who were seen at Children's National Hospital (CNH) during their first three years of life, time of data pull, or up to point of liver transplant. We collected data on the number of individuals with PA or MMA in our patient population, the age at which they first presented, and the reason for their hospital admission.</div></div><div><h3>Results</h3><div>Our cohort included 11 individuals with MMA, all of whom had <em>MMUT</em> mutations, representing a total of 12 different variants. Additionally, 15 individuals with PA were reported. Of these, 2 individuals with PA did not undergo genetic testing, 5 had 7 separate variants in <em>PCCA</em> gene, and 8 had 10 different variants in <em>PCCB</em> gene. The mean number of hospitalizations for metabolic decompensation was 4.45 ± 6.6 for the MMA cohort and 8.7 ± 6.7 for the PA cohort, with no statistically significant difference between the groups. The MMA cohort experienced a total of 49 admissions, 16 (33 %) of which occurred in the first year of life. In the PA cohort, there were 130 total admissions, with 56 (43 %) occurring in the first year. The most frequent reason for admission in both groups was vomiting.</div></div><div><h3>Discussion/Conclusions</h3><div>Individuals with PA and MMA are frequently hospitalized (accounting for 5–6 % of their first three years of life) which likely impacts development and overall health. Data such as those presented in this study are crucial for improving our understanding of disease progression in these rare conditions. This information can help guide future research, support the development of the clinical guidelines, and provide healthcare providers with valuable insights to better educate families on risks and expectations. Using these data, we have altered our counseling at the time of diagnosis to better prepare families for their child's course.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 4","pages":"Article 109289"},"PeriodicalIF":3.5,"publicationDate":"2025-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145513525","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":"MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy","authors":"An N. Dang Do ,&nbsp;Fatemeh Navid ,&nbsp;Sara K. Young-Baird","doi":"10.1016/j.ymgme.2025.109287","DOIUrl":"10.1016/j.ymgme.2025.109287","url":null,"abstract":"<div><div>MEHMO syndrome (OMIM#<span><span>300148</span><svg><path></path></svg></span>) is a rare, X-linked, multisystemic condition that predominantly involves endocrinologic and neurologic dysfunctions. Initial naming of the syndrome emphasizes the presentation of <u>M</u>ental disability, <u>E</u>pileptic seizures, <u>H</u>ypogonadism/<u>H</u>ypogenitalism, <u>M</u>icrocephaly, and <u>O</u>besity. This review provides a synthesis of the genetics, genotypes, and phenotypes of publicly available information on <em>EIF2S3</em> and MEHMO syndrome. Identification and confirmation of variants in the gene <em>EIF2S3</em> as the genetic underpinning of the syndrome's pathophysiology and reports of additional cases suggest a consideration for a re-definition of the acronym and a re-classification of the condition along with others as eIF2-related neuroendocrinopathies. This would allow for more standardized and encompassing characterization of the group of eIF2-related disorders, that in turn would support and continue to spur further research progress in basic pathophysiology, disease diagnosis and monitoring, and biomarker and therapeutic discoveries.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 4","pages":"Article 109287"},"PeriodicalIF":3.5,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145468314","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":"Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis","authors":"David Watkins ,&nbsp;Caitlin Zacharias ,&nbsp;Kyana Arbabian-Urquilla ,&nbsp;Krithika Ragupathi ,&nbsp;Brian M. Gilfix ,&nbsp;Daniel Jimenez ,&nbsp;Natascia Anastasio ,&nbsp;Jean-Baptiste Rivière ,&nbsp;David S. Rosenblatt","doi":"10.1016/j.ymgme.2025.109280","DOIUrl":"10.1016/j.ymgme.2025.109280","url":null,"abstract":"<div><h3>Purpose</h3><div>The <em>cblG</em> inborn error of vitamin B₁₂ metabolism is associated with pathogenic variants in the <em>MTR</em> gene, which encodes methionine synthase. Approximately 50 patients with the disorder have been reported, and 54 potentially causal <em>MTR</em> variants published.</div></div><div><h3>Methods</h3><div>We performed next generation sequencing and copy number variant analysis of <em>MTR</em> on genomic DNA from 29 <em>cblG</em> patients, including 7 patients that had been previously sequenced with incomplete results. All patients had been diagnosed using somatic cell complementation analysis.</div></div><div><h3>Results</h3><div>We identified two potential causal variants in each of the patients analyzed, although parental phasing was not done. 39 different variants were identified, including 24 not previously described in the published literature. The most common identified causal variant was c.3518C &gt; T, p.P1173L (8 alleles). The previously identified deep intronic variants c.340-166 A &gt; T and c.609 + 1088G &gt; A were also seen frequently (6 alleles each). Among the newly identified variants, the most common were c.2020C &gt; T p.Arg674Cys (3 alleles) and c.1325C &gt; A, p.Ala442Glu (2 alleles).</div></div><div><h3>Conclusion</h3><div>Identification of pathogenic or likely pathogenic variants was enhanced by knowledge of complementation status which has become less frequent as somatic cell testing becomes less readily available.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 4","pages":"Article 109280"},"PeriodicalIF":3.5,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145468216","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":"“Nobody listened to us for years”: Parents' experiences of provider communication in the diagnostic odyssey","authors":"Michelle M. Nguyen ,&nbsp;Sevil Mahfoozi ,&nbsp;Devon Bonner ,&nbsp;Daphne O. Martschenko ,&nbsp;Alisha Giri ,&nbsp;Charis Tang ,&nbsp;Undiagnosed Diseases Network,&nbsp;Jonathan A. Bernstein ,&nbsp;Matthew T. Wheeler ,&nbsp;Meghan C. Halley","doi":"10.1016/j.ymgme.2025.109283","DOIUrl":"10.1016/j.ymgme.2025.109283","url":null,"abstract":"<div><h3>Background</h3><div>Well-recognized challenges in rare disease diagnosis include limited awareness of rare diseases among healthcare providers and barriers to accessing genetic testing. Less well understood are the ways in which communication between parents of undiagnosed children and providers may impact access to diagnosis, as well as quality of care broadly. We sought to characterize key dynamics of communication between parents of undiagnosed children and healthcare providers during the diagnostic odyssey.</div></div><div><h3>Methods</h3><div>Parents of undiagnosed children undergoing genomic sequencing were recruited from clinical and research settings and Facebook groups. Participants completed up to three sequential, in-depth interviews. Data were analyzed inductively to identify key themes.</div></div><div><h3>Results</h3><div>Parents (<em>n</em> = 36) identified three key dimensions of their experiences communicating with providers during the diagnostic odyssey, including examples of both effective and challenging communication related to: 1) providers' availability and responsiveness; 2) trust and validation of their concerns by providers; and 3) communication across multiple providers. Parents also described employing divergent strategies, such as increased persistence and advocacy, or minimized communication and resignation, in response to challenges.</div></div><div><h3>Conclusions</h3><div>Our study identified ways in which parent-provider communication can facilitate or hinder access to diagnosis and care for children with undiagnosed diseases. However, communication challenges were not universal, suggesting opportunities for intervention. Additional research is needed to identify interventions to improve parent-provider interactions during the diagnostic odyssey and to systematically evaluate the impact on time to diagnosis, access to care and patient health outcomes.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 4","pages":"Article 109283"},"PeriodicalIF":3.5,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145513527","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":"Mild pancreatic fibrosis with preserved exocrine function and increased visceral adipose tissue in m.3243A>G carriers: A magnetic resonance imaging study","authors":"Simone Rask Nielsen ,&nbsp;Mimoza Gjela ,&nbsp;Malene Pontoppidan Stoico ,&nbsp;Asbjørn Mohr Drewes ,&nbsp;Søren Schou Olesen ,&nbsp;Kurt Højlund ,&nbsp;Inge Søkilde Pedersen ,&nbsp;Christina Brock ,&nbsp;Jens Brøndum Frøkjær ,&nbsp;Anja Lisbeth Frederiksen","doi":"10.1016/j.ymgme.2025.109282","DOIUrl":"10.1016/j.ymgme.2025.109282","url":null,"abstract":"<div><h3>Background</h3><div>Carriers of the mitochondrial variant m.3243A&gt;G have a high risk of diabetes mellitus and frequently report gastrointestinal symptoms, suggesting a dual endocrine and exocrine pancreas dysfunction. Whether changes in pancreatic morphology, abdominal or ectopic fat distribution contribute to these conditions, remains unknown.</div></div><div><h3>Methods</h3><div>Twelve m.3243A&gt;G carriers with diabetes, 11 carriers without diabetes, and 23 healthy controls underwent abdominal magnetic resonance imaging (MRI). T1 relaxation time and magnetic resonance elastography (MRE) stiffness estimated pancreatic fibrosis. Pancreas volume was assessed by MRI and combined with faecal elastase measurements to evaluate exocrine pancreatic function. The ectopic fat content of muscle and the pancreas was estimated using proton density fat fraction, alongside abdominal fat measurements of cross-sectional areas (CSA) of visceral and subcutaneous adipose tissue. The homeostasis model assessment 2 (HOMA2) was used to estimate insulin resistance (HOMA2-IR).</div></div><div><h3>Results</h3><div>Compared to healthy controls, carriers with diabetes had an increased median [IQR] T1 relaxation time (909 ms [868–1085] vs. 823 ms [785–852], <em>p</em> &lt; 0.001) and MRE stiffness (1.32 kPa [1.24–1.43] vs. 1.23 kPa [1.12–1.28], <em>p</em> = 0.03). There was no difference in pancreas volume or evidence of exocrine pancreatic dysfunction evaluated by faecal elastase. Visceral adipose tissue CSA median [IQR] was increased in m.3243A&gt;G carriers compared to controls (61.0 cm² [26.4–100.9] vs. 27.9 cm² [17.2–65.0], <em>p</em> = 0.03) and correlated positively with HOMA2-IR (r_s = 0.7, <em>p</em> &lt; 0.001).</div></div><div><h3>Conclusion</h3><div>Increased T1 relaxation time and MRE stiffness indicate mild pancreatic fibrosis in m.3243A&gt;G carriers with diabetes, without further evidence of exocrine insufficiency. Visceral fat was increased in m.3243A&gt;G carriers and associated with insulin resistance, implying metabolic dysregulation.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 4","pages":"Article 109282"},"PeriodicalIF":3.5,"publicationDate":"2025-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145468316","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":"Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey","authors":"Joseph Muenzer ,&nbsp;Jaco Botha ,&nbsp;Hernan Amartino ,&nbsp;Roberto Giugliani ,&nbsp;Paul Harmatz ,&nbsp;Christoph Kampmann ,&nbsp;Bianca Link ,&nbsp;Shuan-Pei Lin ,&nbsp;David Molter ,&nbsp;Julian Raiman ,&nbsp;Maurizio Scarpa ,&nbsp;Anna Tylki-Szymańska ,&nbsp;Siddharth Jain ,&nbsp;David A.H. Whiteman ,&nbsp;Barbara K. Burton","doi":"10.1016/j.ymgme.2025.109284","DOIUrl":"10.1016/j.ymgme.2025.109284","url":null,"abstract":"<div><h3>Background</h3><div>Mucopolysaccharidosis II (MPS II) is a rare, progressive, X-linked lysosomal storage disease. Enzyme replacement therapy (ERT) with intravenous (IV) idursulfase has been approved for the treatment of patients with MPS II since 2005. The Hunter Outcome Survey (HOS; <span><span>NCT03292887</span><svg><path></path></svg></span>) was established as a condition of approval to monitor the long-term safety and effectiveness of idursulfase. Here, we report the final results from HOS.</div></div><div><h3>Methods</h3><div>HOS was a multicenter, long-term, observational registry that enrolled patients with a biochemically and/or genetically confirmed diagnosis of MPS II who were untreated or treated with idursulfase and/or bone marrow transplant. Patients were enrolled prospectively (alive at enrollment) and retrospectively (deceased at enrollment). For prospectively enrolled patients, it was requested that data from routine examinations were recorded after each follow-up visit and/or a minimum of every 6 months. The safety population (SP) included patients who received at least one dose of idursulfase and were alive at HOS entry. The treatment outcomes population (TOP) included patients who received at least one dose of idursulfase and were alive at HOS entry, excluding patients who received a bone marrow transplant, patients for whom an informed consent form could not be generated by the center, and patients with a missing date of birth. Safety and effectiveness endpoints were analyzed with descriptive statistics.</div></div><div><h3>Results</h3><div>In total, 1332 patients were enrolled in HOS. For patients in the SP (<em>N</em> = 1014), the median (10th percentile, 90th percentile) age at initiation of ERT with idursulfase was 5.7 (1.6, 18.1) years, ranging from 0.0 to 65.5 years. In the TOP (<em>N</em> = 989), a consistent and sustained decline in urinary glycosaminoglycan levels, trends of sustained improvements in walking capacity and left ventricular mass index, and reductions in liver and spleen size were observed. Treated patients also demonstrated a median increase in survival time of approximately 10 years and a 57.9 % lower risk of death compared with an unmatched cohort of untreated patients. In the SP, 691 patients (68.1 %) experienced at least one adverse event and 269 (26.5 %) experienced at least one infusion-related reaction (IRR); most were mild or moderate in severity. There was no relationship observed between anti-drug antibody status and IRR rates.</div></div><div><h3>Conclusion</h3><div>Data from HOS, collected for over 18 years, represent the largest dataset of patients with MPS II to date. The effectiveness and safety profile of idursulfase support its use for the long-term treatment of patients with MPS II.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 4","pages":"Article 109284"},"PeriodicalIF":3.5,"publicationDate":"2025-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145513552","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":"Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease","authors":"Chloe Cheung ,&nbsp;Luca Fierro ,&nbsp;Catherine McDonough ,&nbsp;Chanan Stauffer ,&nbsp;Rachel Kaplan ,&nbsp;Louise Bier ,&nbsp;Chunli Yu ,&nbsp;Rachel Evard ,&nbsp;Jaya Ganesh ,&nbsp;Manisha Balwani","doi":"10.1016/j.ymgme.2025.109286","DOIUrl":"10.1016/j.ymgme.2025.109286","url":null,"abstract":"<div><div>In Gaucher disease (GD), clinical management is complicated by heterogeneity and the lack of standardized guidelines for treatment initiation. As patients are being identified pre-symptomatically or as mildly affected through carrier and newborn screening programs, timing of treatment is an increasingly important issue. This study evaluated the utility of plasma lyso-GL1 as an objective biomarker to inform treatment decisions. Retrospective data were analyzed from 240 GD patients with lyso-GL1 levels measured primarily at a single laboratory between June 2018 and September 2023. The study population included both adult (<em>n</em> = 194, 80.8 %) and pediatric (<em>n</em> = 46, 19.2 %) patients predominantly diagnosed with type 1 GD (<em>n</em> = 234, 97.5 %) and self-identified as Jewish (82.1 %). Among 25 patients who initiated GD-specific treatment during the study period with available pre-treatment lyso-GL1 data, the median age at treatment initiation was 33 years. In this group, the median baseline lyso-GL1 was 91.6 ng/mL, which declined to 19.5 ng/mL following treatment with a median follow-up of 2.9 years. In contrast, untreated patients had a median baseline lyso-GL1 of 14.2 ng/mL, which increased to 17.0 ng/mL over a similar follow-up period. Logistic regression and receiver operating characteristic analysis identified a lyso-GL1 threshold of 78.9 ng/mL that effectively discriminated treatment status in GD1 patients, with an area under the curve of 0.865, sensitivity of 73 %, and specificity of 96 %. The predictive performance of this identified threshold was comparable to that reported in a previous study, underscoring the reproducibility and potential utility of lyso-GL1 as a reliable and objective biomarker to guide treatment initiation in Gaucher disease.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 4","pages":"Article 109286"},"PeriodicalIF":3.5,"publicationDate":"2025-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145468267","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":"Commentary on the article “Progressive activation of the astrocyte A1 phenotype underlies microglia-astroglia crosstalk and contributes to neuroinflammation in neuronopathic MPS”","authors":"Yuxuan Gao,&nbsp;Weili Wang,&nbsp;Jiapeng Leng","doi":"10.1016/j.ymgme.2025.109281","DOIUrl":"10.1016/j.ymgme.2025.109281","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 4","pages":"Article 109281"},"PeriodicalIF":3.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145459235","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":"Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia","authors":"Liene Thys ,&nbsp;Diane Beysen ,&nbsp;Katrien Janssens ,&nbsp;Anna C. Jansen ,&nbsp;Naig Gueguen ,&nbsp;Morgane LeMao ,&nbsp;Fanny Fontaine ,&nbsp;Stéphane Allouche ,&nbsp;Guy Lenaers ,&nbsp;Marije Meuwissen","doi":"10.1016/j.ymgme.2025.109266","DOIUrl":"10.1016/j.ymgme.2025.109266","url":null,"abstract":"<div><h3>Background</h3><div>Biallelic variants in <em>RTN4IP1</em> (<em>OPA10</em>) are associated with a wide phenotypic spectrum including optic atrophy with or without ataxia, impaired intellectual development and seizures (OMIM <span><span>616732</span><svg><path></path></svg></span>). Brain imaging ranges from normal to white matter changes and cerebral atrophy. Earlier literature has reported a combined complex I and IV deficiency in <em>RTN4IP1</em> cases.</div></div><div><h3>Results</h3><div>We report on three siblings, compound heterozygous for novel <em>RTN4IP1</em> variants who presented with a movement disorder with pronounced dyskinesia along with developmental delay, optic atrophy and ataxia. Furthermore, atypical brain MRI findings with symmetrical bilateral substantia nigra abnormalities were observed in two of them. Blue native polyacrylamide gel electrophoresis performed on fibroblasts of two patients revealed a defect in the complex I assembly process.</div></div><div><h3>Conclusion</h3><div>Thus, we expand the clinical spectrum of <em>RTN4IP1</em>-associated disease with movement disorder, <em>substantia nigra</em> abnormalities and complex I assembly defects.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109266"},"PeriodicalIF":3.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145401333","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":"Corrigendum to “Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]”","authors":"Andrew C. Edmondson ,&nbsp;Tomas Honzik ,&nbsp;Christina Lam ,&nbsp;Katrin Ounap ,&nbsp;Peter McWilliams ,&nbsp;Eva Morava","doi":"10.1016/j.ymgme.2025.109252","DOIUrl":"10.1016/j.ymgme.2025.109252","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109252"},"PeriodicalIF":3.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145302068","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}