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Last Updated: 10/31/2025
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Found 186 publications
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Journal: Frontiers in genetics
Published: April 24, 2025
Rare Etiology of Isolated Macrocytosis: Adenosine Kinase Deficiency With a Novel Mutation.
Journal: Journal of pediatric hematology/oncology
Published: July 22, 2024
Tannic acid: A possible therapeutic agent for hypermethioninemia-induced neurochemical changes in young rats.
Journal: Biochemical and biophysical research communications
Published: June 12, 2024
Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.
Journal: BMC pediatrics
Published: May 06, 2024
Asymptomatic pediatric presentation of S-adenosylhomocysteine hydrolase deficiency.
Journal: JIMD reports
Published: March 23, 2024
Interactions between Lipid Vesicle Membranes and Single Amino Acid Fibrils: Probable Origin of Specific Neurological Disorders.
Journal: Langmuir : the ACS journal of surfaces and colloids
Published: January 19, 2024
Effects of S-Adenosylhomocysteine Hydrolase Downregulation on Wnt Signaling Pathway in SW480 Cells.
Journal: International journal of molecular sciences
Published: September 13, 2023
Pathological role of methionine in the initiation and progression of biliary atresia.
Journal: Frontiers in pediatrics
Published: July 20, 2023
Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.
Journal: Children (Basel, Switzerland)
Published: December 31, 2022
Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine.
Journal: JIMD reports
Published: December 04, 2022
Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.
Journal: Frontiers in cell and developmental biology
Published: October 01, 2022
Last Updated: 10/31/2025