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Homocystinuria Latest Advances
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Last Updated: 01/20/2023
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Found 9 publications
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Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications.
Journal:
Molecular genetics and metabolism
Published:
January 08, 2022
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Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.
Journal:
BMJ case reports
Published:
January 05, 2022
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Determination of Cytokines and Oxidative Stress Biomarkers in Cognitive Impairment Induced by Methylmalonic Acidemia.
Journal:
Neuroimmunomodulation
Published:
August 02, 2021
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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
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Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Journal:
International journal of molecular sciences
Published:
April 03, 2021
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Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.
Journal:
Orphanet journal of rare diseases
Published:
March 11, 2021
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Cases of inborn errors of metabolism diagnosed in children with autism.
Journal:
Ideggyogyaszati szemle
Published:
January 26, 2021
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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
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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
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Showing 1-9 of 9
Last Updated: 01/20/2023