Found: 21
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Interest of the cellular population data analysis as an aid in the early diagnosis of SARS‐CoV‐2 infection.
- Published in:
- International Journal of Laboratory Hematology, 2021, v. 43, n. 1, p. 116, doi. 10.1111/ijlh.13312
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- Article
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
- Published in:
- 2017
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- Publication type:
- journal article
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0266-1
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- Article
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 58, doi. 10.1186/s13023-015-0266-1
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- Publication type:
- Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-148
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- Publication type:
- Article
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-192
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- Publication type:
- Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
- Published in:
- 2015
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- Publication type:
- journal article
The environmental carcinogen benzo[a]pyrene induces a Warburg-like metabolic reprogramming dependent on NHE1 and associated with cell survival.
- Published in:
- Scientific Reports, 2016, p. 30776, doi. 10.1038/srep30776
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- Article
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.
- Published in:
- 2017
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- Publication type:
- journal article
Can Haematological Parameters Discriminate COVID-19 from Influenza?
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 1, p. 186, doi. 10.3390/jcm13010186
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- Publication type:
- Article
Autism spectrum disorders in propionic acidemia patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 623, doi. 10.1007/s10545-017-0070-2
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- Publication type:
- Article
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 783, doi. 10.1007/s10545-017-0083-x
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- Publication type:
- Article
Neurocognitive profiles in MSUD school-age patients.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 377, doi. 10.1007/s10545-017-0033-7
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- Publication type:
- Article
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 47, doi. 10.1007/s10545-015-9871-3
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- Publication type:
- Article
Acute rhabdomyolysis and inflammation.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 4, p. 621, doi. 10.1007/s10545-015-9827-7
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- Publication type:
- Article
A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 11, p. 1, doi. 10.1371/journal.pgen.1004711
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- Publication type:
- Article
Two dimensional gel electrophoresis of apolipoprotein C-III and MALDI-TOF MS are complementary techniques for the study of combined defects in N- and mucin type O-glycan biosynthesis.
- Published in:
- Proteomics - Clinical Applications, 2008, v. 2, n. 12, p. 1670, doi. 10.1002/prca.200800089
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- Publication type:
- Article
A low level of CD16<sup>pos</sup> monocytes in SARS-CoV-2 infected patients is a marker of severity.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 7, p. 1315, doi. 10.1515/cclm-2020-1801
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- Publication type:
- Article
Detection of monoclonal B-lymphocytosis: interest of cellular population data and CytoDiff™ analysis.
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- Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 3, p. e83, doi. 10.1515/cclm-2019-0914
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- Publication type:
- Article