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From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia.
- Published in:
- Children, 2024, v. 11, n. 8, p. 990, doi. 10.3390/children11080990
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- Publication type:
- Article
Factors Affecting Non-Enzymatic Protein Acylation by trans -3-Methylglutaconyl Coenzyme A.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 8, p. 421, doi. 10.3390/metabo14080421
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- Publication type:
- Article
TUFM variants lead to white matter abnormalities mimicking multiple sclerosis.
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- European Journal of Neurology, 2023, v. 30, n. 10, p. 3400, doi. 10.1111/ene.15982
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- Publication type:
- Article
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
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- Haemophilia, 2023, v. 29, n. 3, p. 921, doi. 10.1111/hae.14771
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- Publication type:
- Article
Mapping the Spatial Footprint of Sea Breeze Winds in the Southeastern United States.
- Published in:
- Journal of Geophysical Research. Atmospheres, 2023, v. 128, n. 7, p. 1, doi. 10.1029/2022JD037524
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- Publication type:
- Article
An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis.
- Published in:
- American Journal of Case Reports, 2022, v. 23, p. e937967-1, doi. 10.12659/AJCR.937967
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- Publication type:
- Article
Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency.
- Published in:
- 2022
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- Publication type:
- Case Study
The Succinate Receptor SUCNR1 Resides at the Endoplasmic Reticulum and Relocates to the Plasma Membrane in Hypoxic Conditions.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 14, p. N.PAG, doi. 10.3390/cells11142185
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- Publication type:
- Article
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 3, doi. 10.1002/jmd2.12243
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- Article
Deficiency of ASGR1 in pigs recapitulates reduced risk factor for cardiovascular disease in humans.
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- PLoS Genetics, 2021, v. 17, n. 11, p. 1, doi. 10.1371/journal.pgen.1009891
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- Publication type:
- Article
A full molecular picture of F8 intron 1 inversion created with optical genome mapping.
- Published in:
- Haemophilia, 2021, v. 27, n. 5, p. e638, doi. 10.1111/hae.14375
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- Publication type:
- Article
Toshiyuki Fukao.
- Published in:
- 2020
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- Publication type:
- Obituary
Deficiency of 3‐hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 960, doi. 10.1002/jimd.12243
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- Publication type:
- Article
Urolithin A exerts antiobesity effects through enhancing adipose tissue thermogenesis in mice.
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- PLoS Biology, 2020, v. 18, n. 3, p. 1, doi. 10.1371/journal.pbio.3000688
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- Publication type:
- Article
Effective civil society engagement with governments on issues around detention.
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- Forced Migration Review, 2020, n. 63, p. 61
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- Publication type:
- Article
Effective civil society engagement with governments on issues around detention: With immigration detention expanding globally, civil society has responded with a range of advocacy strategies to address rights and protection concerns.
- Published in:
- Revista Migraciones Forzadas, 2020, p. 61
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- Publication type:
- Article
An Epistatic Interaction between Pnpla2 and Lipe Reveals New Pathways of Adipose Tissue Lipolysis.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 5, p. 395, doi. 10.3390/cells8050395
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- Publication type:
- Article
Hereditary diseases of coenzyme A thioester metabolism.
- Published in:
- Biochemical Society Transactions, 2019, v. 47, n. 1, p. 149, doi. 10.1042/BST20180423
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- Publication type:
- Article
Influence of implementing a protocol for an intravenously administered ammonia scavenger on the management of acute hyperammonemia in a pediatric intensive care unit.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 77, doi. 10.1002/jimd.12029
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- Publication type:
- Article
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 107, doi. 10.1002/jimd.12032
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- Publication type:
- Article
Adipose Tissue Deficiency of Hormone-Sensitive Lipase Causes Fatty Liver in Mice.
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- PLoS Genetics, 2017, v. 13, n. 12, p. 1, doi. 10.1371/journal.pgen.1007110
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- Publication type:
- Article
Epistatic interaction between the lipase-encoding genes Pnpla2 and Lipe causes liposarcoma in mice.
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- PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006716
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- Publication type:
- Article
A beta cell ATGL-lipolysis/adipose tissue axis controls energy homeostasis and body weight via insulin secretion in mice.
- Published in:
- Diabetologia, 2016, v. 59, n. 12, p. 2654, doi. 10.1007/s00125-016-4105-2
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- Publication type:
- Article
Adipose-Specific Deficiency of Fumarate Hydratase in Mice Protects Against Obesity, Hepatic Steatosis, and Insulin Resistance.
- Published in:
- 2016
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- Publication type:
- journal article
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 9, p. 1019, doi. 10.15252/emmm.201506159
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- Publication type:
- Article
Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 173, doi. 10.1007/s10545-015-9903-z
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- Publication type:
- Article
Lotus Research.
- Published in:
- Water Garden Journal, 2016, v. 31, n. 1, p. 14
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- Publication type:
- Article
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1266, doi. 10.1038/ejhg.2014.256
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- Publication type:
- Article
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
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- Human Genetics, 2015, v. 134, n. 9, p. 981, doi. 10.1007/s00439-015-1577-y
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- Publication type:
- Article
The 3' addition of CCA to mitochondrial tRNA<sup>Ser(AGY)</sup> is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
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- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2841, doi. 10.1093/hmg/ddv044
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- Publication type:
- Article
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy.
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- Human Mutation, 2015, v. 36, n. 1, p. 69, doi. 10.1002/humu.22709
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- Publication type:
- Article
Inborn errors of cytoplasmic triglyceride metabolism.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 85, doi. 10.1007/s10545-014-9767-7
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- Publication type:
- Article
Ketone body metabolism and its defects.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 541, doi. 10.1007/s10545-014-9704-9
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- Publication type:
- Article
Scavenger receptor CD36 mediates inhibition of cholesterol synthesis via activation of the PPAR<sub>&Ɣ</sub> PGC-1ǯ pathway and Insig 1/2 expression in hepatocytes.
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- FASEB Journal, 2014, v. 28, n. 4, p. 1910, doi. 10.1096/fj.13-240168
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- Publication type:
- Article
Positive Regulation of Insulin Signaling by Neuraminidase 1.
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- Diabetes, 2013, v. 62, n. 7, p. 2338, doi. 10.2337/db12-1825
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- Publication type:
- Article
Positive regulation of insulin signaling by neuraminidase 1.
- Published in:
- 2013
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- Publication type:
- journal article
A treatable new cause of chorea: Beta-ketothiolase deficiency.
- Published in:
- Movement Disorders, 2013, v. 28, n. 8, p. 1054, doi. 10.1002/mds.25538
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- Publication type:
- Article
A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0060581
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- Publication type:
- Article
Yileen Water Garden.
- Published in:
- Water Garden Journal, 2013, v. 28, n. 1, p. 22
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- Publication type:
- Article
Recommendations for the management of tyrosinaemia type 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-8
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- Publication type:
- Article
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
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- Human Mutation, 2011, v. 32, n. 6, p. 610, doi. 10.1002/humu.21480
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- Publication type:
- Article
Treatment of cobalamin C (cblC) deficiency during pregnancy.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 409, doi. 10.1007/s10545-010-9202-7
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- Publication type:
- Article
Development and description of GETT: a Genetic testing Evidence Tracking Tool.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2010, v. 48, n. 10, p. 1397, doi. 10.1515/CCLM.2010.291
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- Publication type:
- Article
Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome.
- Published in:
- 2010
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- Publication type:
- Case Study
Lotus of India.
- Published in:
- Water Garden Journal, 2010, v. 25, n. 2, p. 22
- By:
- Publication type:
- Article
An Infant With Mucolipidosis-II And an Atretic orifice of the Left Coronary Artery.
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- Cardiology in the Young, 2010, v. 20, n. 1, p. 97, doi. 10.1017/S1047951109991843
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- Publication type:
- Article
The stoichiometry of protein phosphorylation in adipocyte lipid droplets: Analysis by N-terminal isotope tagging and enzymatic dephosphorylation.
- Published in:
- Proteomics, 2009, v. 9, n. 22, p. 5067, doi. 10.1002/pmic.200800861
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- Publication type:
- Article
Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 3, p. 266, doi. 10.1002/pd.2218
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- Publication type:
- Article
Development and characterization of microsatellite loci for lotus (Nelumbo nucifera).
- Published in:
- Conservation Genetics, 2008, v. 9, n. 5, p. 1385, doi. 10.1007/s10592-007-9503-z
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- Publication type:
- Article
Liver-Specific Silencing of the Human Gene Encoding Succinyl-CoA: 3-Ketoacid CoA Transferase.
- Published in:
- Tohoku Journal of Experimental Medicine, 2008, v. 215, n. 3, p. 227, doi. 10.1620/tjem.215.227
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- Publication type:
- Article