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1
Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease
Published 2025-01-01“…JIMD Reports…”
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2
A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates
Published 2025-01-01“…JIMD Reports…”
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3
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4
Phenotypic variability and the gender paradox in the R363C variant of Fabry disease
Published 2025-01-01“…JIMD Reports…”
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5
D,L‐3‐hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)
Published 2025-01-01“…JIMD Reports…”
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6
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter
Published 2025-01-01“…JIMD Reports…”
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7
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria
Published 2025-01-01“…JIMD Reports…”
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9
Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study
Published 2025-01-01“…JIMD Reports…”
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10
Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study
Published 2025-01-01“…JIMD Reports…”
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11
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing
Published 2025-01-01“…JIMD Reports…”
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12
Liver Transplant From a Deceased Donor With Cystinosis: A Case Report
Published 2025-01-01“…JIMD Reports…”
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13
Liver transplantation in glycogen storage disease type III: A case‐series
Published 2025-01-01“…JIMD Reports…”
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14
Development of the Dutch translational knowledge agenda for inherited metabolic diseases
Published 2025-01-01“…JIMD Reports…”
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