Yutaka Furuta

18PUBLICATIONS
22CO-AUTHORS
Medical biochemistry - carbohydratesNeonatologyMedical biochemistry - lipidsMetabolic medicineEpigenetics (incl. genome methylation and epigenomics)
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Publications (18)

|Aug 04, 2026
Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction.

|Jun 26, 2026
Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.

|Apr 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.

|Apr 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.

|Mar 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.

Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone

|Jan 07, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN.

Athira Sivadas, Katelyn Moore, Kimberly Ezell

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Frequent Collaborators

8 joint publications

Rory J Tinker

4 joint publications

Thomas Cassini

3 joint publications

Kimberly M Ezell

2 joint publications

John A Phillips