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Cureus
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October 28, 2024
Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing Panel
Yutaka Furuta, John A Phillips
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi
|
June 19, 2024
Delayed Diagnosis of Painless Thyroiditis in an Adolescent Presenting with Aggression and Disruptive Behavior Initially Attributed to Worsening of a Psychiatric Disorder
Yutaka Furuta, Takahiro Masuoka, Ryuichiro Narishige, et al.
Molecular Genetics and Metabolism
|
October 16, 2025
Effectiveness of newborn screening for X-linked disorders in females: A scoping review
Hanabi Geiger, Yutaka Furuta, John A Phillips, et al.
Reports (MDPI)
|
July 25, 2025
New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication
Yutaka Furuta, Erica T Nelson, Rory J Tinker, et al.
The American Surgeon
|
November 23, 2025
Emergency Management of Inherited Metabolic Disorders in Acute Surgical and Trauma Settings
Yutaka Furuta, Rory J Tinker, Angela R Grochowsky, et al.
Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners
|
February 26, 2026
Coagulopathy in Neonates With Classic Galactosemia: A Life-Threatening Yet Underrecognized Complication
Jessica K Gagen, Rory J Tinker, John A Phillips, et al.
Cureus
|
March 10, 2025
Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder
Yutaka Furuta, Rory J Tinker, Ryan M Dahlhauser, et al.
Reports (MDPI)
|
October 24, 2025
The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report
Yutaka Furuta, Rory J Tinker, Angela R Grochowsky, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2024
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network
Alex F Gimeno, Rory J Tinker, Yutaka Furuta, et al.
Genes
|
October 26, 2024
The Clinical Spectrum of Mosaic Genetic Disease
Hanabi Geiger, Yutaka Furuta, Suné van Wyk, et al.
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of 4
Search research articles
Search
Showing results (1-10 of 31) with videos related to
Sort By:
Page
of 4
Cureus
|
October 28, 2024
Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing Panel
Yutaka Furuta, John A Phillips
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi
|
June 19, 2024
Delayed Diagnosis of Painless Thyroiditis in an Adolescent Presenting with Aggression and Disruptive Behavior Initially Attributed to Worsening of a Psychiatric Disorder
Yutaka Furuta, Takahiro Masuoka, Ryuichiro Narishige, et al.
Molecular Genetics and Metabolism
|
October 16, 2025
Effectiveness of newborn screening for X-linked disorders in females: A scoping review
Hanabi Geiger, Yutaka Furuta, John A Phillips, et al.
Reports (MDPI)
|
July 25, 2025
New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication
Yutaka Furuta, Erica T Nelson, Rory J Tinker, et al.
The American Surgeon
|
November 23, 2025
Emergency Management of Inherited Metabolic Disorders in Acute Surgical and Trauma Settings
Yutaka Furuta, Rory J Tinker, Angela R Grochowsky, et al.
Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners
|
February 26, 2026
Coagulopathy in Neonates With Classic Galactosemia: A Life-Threatening Yet Underrecognized Complication
Jessica K Gagen, Rory J Tinker, John A Phillips, et al.
Cureus
|
March 10, 2025
Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder
Yutaka Furuta, Rory J Tinker, Ryan M Dahlhauser, et al.
Reports (MDPI)
|
October 24, 2025
The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report
Yutaka Furuta, Rory J Tinker, Angela R Grochowsky, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2024
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network
Alex F Gimeno, Rory J Tinker, Yutaka Furuta, et al.
Genes
|
October 26, 2024
The Clinical Spectrum of Mosaic Genetic Disease
Hanabi Geiger, Yutaka Furuta, Suné van Wyk, et al.
Page
of 4