Found: 10
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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0176363
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- Publication type:
- Article
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 4, p. 581, doi. 10.1007/s11011-021-00671-1
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- Publication type:
- Article
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 2, p. 557, doi. 10.1007/s11011-019-0384-x
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- Publication type:
- Article
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 6, p. 2131, doi. 10.1007/s11011-017-0109-y
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- Publication type:
- Article
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03094-0
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- Publication type:
- Article
Intrafamilial Phenotypic Variability in Two Siblings with Primary Ciliary Dyskinesia Due to Homozygous Loss of Function Mutation in the CCDC151 Gene.
- Published in:
- Israel Medical Association Journal, 2020, v. 22, n. 4, p. 260
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- Publication type:
- Article
Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism.
- Published in:
- Israel Medical Association Journal, 2019, v. 21, n. 3, p. 219
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- Publication type:
- Article
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
- Published in:
- 2021
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- Publication type:
- journal article
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 522, doi. 10.1111/cge.14032
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- Publication type:
- Article
Apparent mineralocorticoid excess in Israel: a case series and literature review.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 5, p. 347, doi. 10.1093/ejendo/lvae049
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- Publication type:
- Article