Found: 21
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Acute Inhibition of Medium-Chain Fatty Acid Oxidation In Vivo Only Slightly Inhibits Endogenous Glucose Production in Short Term Fasted Male C57BL/6J Mice.
- Published in:
- Diabetes, 2007, v. 56, p. A391
- By:
- Publication type:
- Article
Long-Chain Fatty Acid Oxidation Is Not Essential to Drive Gluconeogenesis in Short Term Fasted Male CB57BL/6J Mice In Vivo.
- Published in:
- Diabetes, 2007, v. 56, p. A391
- By:
- Publication type:
- Article
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 947, doi. 10.1038/sj.ejhg.5201428
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- Publication type:
- Article
Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy.
- Published in:
- Kidney International, 2014, v. 86, n. 4, p. 747, doi. 10.1038/ki.2014.102
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- Publication type:
- Article
Liver transplantation in glycogen storage disease type I.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-47
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- Publication type:
- Article
Liver transplantation in glycogen storage disease type I.
- Published in:
- 2014
- By:
- Publication type:
- journal article
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-43
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- Publication type:
- Article
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 30, doi. 10.1186/1750-1172-7-30
- By:
- Publication type:
- Article
In memoriam Professor Dr. John Fernandes.
- Published in:
- 2008
- By:
- Publication type:
- Obituary
Safe and unsafe duration of fasting for children with MCAD deficiency.
- Published in:
- 2007
- By:
- Publication type:
- journal article
A different approach to breast-feeding of the infant with phenylketonuria.
- Published in:
- 2003
- By:
- Publication type:
- journal article
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.
- Published in:
- 2000
- By:
- Publication type:
- journal article
End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 381, doi. 10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU13>3.0.CO;2-K
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- Publication type:
- Article
Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified.
- Published in:
- Human Mutation, 1999, v. 13, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU19>3.0.CO;2-E
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- Publication type:
- Article
A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED- CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing.
- Published in:
- Human Mutation, 2013, v. 34, n. 7, p. 967, doi. 10.1002/humu.22316
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- Publication type:
- Article
Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 4, p. 495
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- Publication type:
- Article
X-linked liver glycogenosis: localization and isolation of a candidate gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 5, p. 583
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- Publication type:
- Article