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2022
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2018
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2025
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Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
Not available
S-EPMC5818531
|
biostudies-literature
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Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.
Not available
S-EPMC9026385
|
biostudies-literature
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Loss of CD4
+
T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection.
Not available
S-EPMC10576612
|
biostudies-literature
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A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Not available
S-EPMC9643640
|
biostudies-literature
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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Not available
S-EPMC5985281
|
biostudies-literature
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The natural history of classic galactosemia: lessons from the GalNet registry.
Not available
S-EPMC6486996
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biostudies-literature
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State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases.
Not available
S-EPMC12074895
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biostudies-literature
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