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Last Updated: 01/20/2023

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Found 9 publications

Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications.

Journal: Molecular genetics and metabolism
Published: January 08, 2022

Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.

Journal: BMJ case reports
Published: January 05, 2022

Determination of Cytokines and Oxidative Stress Biomarkers in Cognitive Impairment Induced by Methylmalonic Acidemia.

Journal: Neuroimmunomodulation
Published: August 02, 2021

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Journal: Orphanet journal of rare diseases
Published: May 01, 2021

Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.

Journal: International journal of molecular sciences
Published: April 03, 2021

Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.

Journal: Orphanet journal of rare diseases
Published: March 11, 2021

Cases of inborn errors of metabolism diagnosed in children with autism.

Journal: Ideggyogyaszati szemle
Published: January 26, 2021

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Condition: Homocystinuria
Journal: Orphanet journal of rare diseases
Treatment Used: Betaine anhydrous
Number of Patients: 125
Published: March 16, 2019

Feasibility of domino liver transplantation from hyperhomocsyteinemia.

Condition: Hyperhomocsyteinemia
Journal: Clinics and research in hepatology and gastroenterology
Treatment Used: Liver transplantation
Number of Patients: 2
Published: March 12, 2019
Showing 1-9 of 9

Last Updated: 01/20/2023