ArticleThe New England journal of medicine2022
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
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In one paragraph
Article in The New England journal of medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 1 pooled it
12.0field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 110 citations in OpenAlex.
- Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.Frontiers in immunology · 2025Pooled it
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review.Medical science monitor : international medical journal of experimental and clinical research · 2026Review
- Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes.International journal of neonatal screening · 2026Review
- Neonatal neurocritical care considerations for prenatally identified neurological disorders.Pediatric research · 2026Review
- In Utero Molecular-Targeted Drug Therapies: Translational Principles, Pharmacologic Considerations, and Emerging Clinical Applications.Journal of clinical medicine · 2026Review
- A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.International journal of molecular sciences · 2026Review
- Considerations for early life genetic therapies in cystic fibrosis.American journal of physiology. Lung cellular and molecular physiology · 2026Review
- The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations.Prenatal diagnosis · 2026Review
- Defining a Midgestational Window forbioRxiv : the preprint server for biology · 2026Article
- RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.Nature communications · 2026Article
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
- Article
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- In utero precision medicine for severe, early-onset neurogenetic disease: scientific, clinical and ethical considerations.Pediatric research · 2025Article
- Extending the Branches of Neonatal Neurocritical Care.Seminars in perinatology · 2025Review
- Recent advances in mucopolysaccharidosis IVA treatment.Orphanet journal of rare diseases · 2025Review
- In utero therapy for spinal muscular atrophy: closer to clinical translation.Brain : a journal of neurology · 2025Review
- Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.Prenatal diagnosis · 2025Article
- Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.American journal of medical genetics. Part C, Seminars in medical genetics · 2025Review
Corrections and comments
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Authors and funding
21 authors at 4 institutions in 2 countries.
Jennifer L CohenFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Pranesh ChakrabortyFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Karen Fung-Kee-FungFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Marisa E SchwabFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).ORCID 0000-0001-9217-1840
Deeksha BaliFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Sarah P YoungFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Michael H GelbFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Hamid KhalediFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Alicia DiBattistaFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Stacey SmallshawFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Felipe MorettiFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Derek WongFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Catherine LacroixFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Dina El DemellawyFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Kyle C StricklandFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Jane LougheedFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Anita Moon-GradyFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Billie R LianoglouFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Paul HarmatzFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Priya S KishnaniFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Tippi C MacKenzieFrom the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.), the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ottawa Hospital, University of Ottawa (K.F.-K.-F., F.M.), and Children's Hospital of Eastern Ontario Research Institute (P.C., A.D.) - all in Ottawa; the University of California, San Francisco (UCSF) Benioff Children's Hospital and the UCSF Center for Maternal-Fetal Precision Medicine, San Francisco (M.E.S., A.M.-G., B.R.L., P.H., T.C.M.); and the Department of Chemistry, University of Washington, Seattle (M.H.G., H.K.).
Children's Hospital of Eastern Ontario · CAUniversity of Ottawa · CAUniversity of Washington · USDuke University · US
Funding
Multiplex Analysis of Inborn Errors of MetabolismR01DK067859 · NIDDK · UNIVERSITY OF WASHINGTON · PI GELB, MICHAEL H · 2003 to 2025
$9.8MPhase 1 Study of In Utero Enzyme Replacement Therapy for the Treatment of Lysosomal Storage DiseasesR01HD110270 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Tippi Mackenzie · 2022 to 2026
$3.3MNICHD NIH HHS R01 HD110270NIDDK NIH HHS R01 DK067859
Abstract
Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)-negative infantile-onset Pompe's disease. The family history was positive for infantile-onset Pompe's disease with cardiomyopathy in two previously affected deceased siblings. After receiving in utero ERT and standard postnatal therapy, the current patient had normal cardiac and age-appropriate motor function postnatally, was meeting developmental milestones, had normal biomarker levels, and was feeding and growing well at 13 months of age.
Indexed as
Glycogen Storage Disease Type IIHumansInfant
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