Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Yasuhiko Ago

A Rare PHKA2 Variant (p.G991A) Identified in a Patient With Ketotic Hypoglycemia

Internal Medicine

Molecular Biology

English

Related publications

A Novel Compound Heterozygous Variant Identified in GLDC Gene in a Chinese Family With Non-Ketotic Hyperglycinemia

BMC Medical Genetics

English

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Reproductive Medicine

English

A Rare Paraneoplastic Syndrome Causing Hypoglycemia

Cardiovascular Medicine

Intensive Care Medicine

Respiratory Medicine

English

A Rare Variant of Transthyretin-Related Amyloidosis Associated With Exclusive Cardiomyopathy in a Hong Kong Chinese Patient

Journal of Cardiology Cases

Cardiovascular Medicine

English

Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient With Hoyeraal-Hreidarsson Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Molecular genetics & genomic medicine

Molecular Biology

English

Fructosuria and Recurrent Hypoglycemia in a Patient With a Novel C.1693T>A Variant in the 3′ Untranslated Region of the Aldolase B Gene

SAGE Open Medical Case Reports

English

Normal, Production and Increased Oxidation of Glucose Associated With Epinephrine Deficiency in “Ketotic” Hypoglycemia

Pediatric Research

English

Cold Agglutinin Disease in Fibrolamellar Hepatocellular Carcinoma: A Rare Association With a Rare Cancer Variant

Annals of Saudi Medicine

English