Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

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http://www.wikidata.org/entity/Q48749997
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Emerging aspects of treatment in mitochondrial disorders.A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Treatment of genetic defects of thiamine transport and metabolism.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Treatable mitochondrial diseases: cofactor metabolism and beyond.Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.Mitochondriopathien – neue Trends in Diagnostik und Therapie
P2860

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

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http://www.wikidata.org/entity/Q48749997
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2014 nî lūn-bûn
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Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
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Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
@nl
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Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
@en
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
@nl
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Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
@en
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698