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In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
- Published in:
- 2010
- By:
- Publication type:
- journal article
What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
- Published in:
- 2008
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- Publication type:
- journal article
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
- By:
- Publication type:
- Article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
- By:
- Publication type:
- Article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
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- Publication type:
- Article
Intrafamilial Variability in LPIN1-Related Rhabdomyolysis.
- Published in:
- 2020
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- Publication type:
- Abstract
Persistent Hyperinsulinemic Hypoglycemia Due to SUR1 (ABCC8) Mutation in Newborn Twins: An Eight-Year Follow-Up.
- Published in:
- 2015
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- Publication type:
- Case Study
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0513-0
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- Publication type:
- Article
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
- Published in:
- 2016
- By:
- 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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- Publication type:
- 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
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
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- Publication type:
- Article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
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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
Natural history of Barth syndrome: a national cohort study of 22 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-70
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- Publication type:
- Article
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
- 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:
- 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
Natural history of Barth syndrome: a national cohort study of 22 patients.
- Published in:
- 2013
- By:
- Publication type:
- journal 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
Congenital hyperinsulinism: current trends in diagnosis and therapy.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Epilepsy in Menkes Disease: Analysis of Clinical Stages.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, n. 2, p. 380, doi. 10.1111/j.1528-1167.2006.00432.x
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- Publication type:
- Article
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
- Published in:
- Journal of Clinical Investigation, 2007, v. 117, n. 3, p. 765, doi. 10.1172/JCI29089
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- Publication type:
- Article
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 2, p. 445, doi. 10.3390/life13020445
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- Publication type:
- Article
High glucose intake and glycaemic level in critically ill neonates with inherited metabolic disorders of intoxication.
- Published in:
- 2016
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- Publication type:
- journal article
Transition de la médecine pédiatrique vers la médecine d'adulte des patients atteints de maladies héréditaires du métabolisme. Recommandations de la filière G2m (Groupement des Maladies héréditaires du Métabolisme)
- Published in:
- Médecine Thérapeutique: Pédiatrie, 2022, v. 24, n. 3/4, p. 171, doi. 10.1684/mtp.2023.0767
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- Publication type:
- Article
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1243, doi. 10.1038/ng.2414
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- Publication type:
- Article
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
- Published in:
- Nature Genetics, 2011, v. 43, n. 9, p. 883, doi. 10.1038/ng.908
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- Publication type:
- Article
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
- Published in:
- Nature Genetics, 2007, v. 39, n. 6, p. 776, doi. 10.1038/ng2040
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- Publication type:
- Article
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 57, doi. 10.1038/ng706
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- Publication type:
- Article
Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia.
- Published in:
- 2017
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- Publication type:
- journal article
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.
- Published in:
- 2016
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- Publication type:
- journal article
Aromatic L-amino Acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.
- Published in:
- 2013
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- Publication type:
- Journal Article
Familial focal congenital hyperinsulinism.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.
- Published in:
- 2006
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- Publication type:
- journal article
Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy.
- Published in:
- Pediatric Radiology, 2001, v. 31, n. 9, p. 650, doi. 10.1007/s002470100522
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- Publication type:
- Article
The Compartmentalisation of Phosphorylated Free Oligosaccharides in Cells from a CDG Ig Patient Reveals a Novel ER-to-Cytosol Translocation Process.
- Published in:
- PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011675
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- Publication type:
- Article
Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion.
- Published in:
- PLoS ONE, 2008, v. 3, n. 12, p. 1, doi. 10.1371/journal.pone.0003850
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- Publication type:
- Article
Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: <sup>1</sup>H NMR spectroscopy and genetic testing.
- Published in:
- 2019
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- Publication type:
- journal article
Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 2, p. 162, doi. 10.1111/dmcn.12045
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- Publication type:
- Article
Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 11, p. 1012, doi. 10.1111/j.1469-8749.2012.04400.x
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- Publication type:
- Article
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 2, p. e1, doi. 10.1111/j.1469-8749.2009.03541.x
- By:
- Publication type:
- Article
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 3, p. 227
- By:
- Publication type:
- Article
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Congenital Hyperinsulinism: Pancreatic [<sup>18</sup>F]Fluoro-L-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 3, p. 933, doi. 10.1210/jc.2005-1713
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- Publication type:
- Article
Acute Insulin Responses to Calcium and Tolbutamide Do Not Differentiate Focal from Diffuse Congenital Hyperinsulinism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 2, p. 925, doi. 10.1210/jc.2003-030941
- By:
- Publication type:
- Article
Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate Dehydrogenase.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 4, p. 1782, doi. 10.1210/jcem.86.4.7414
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- Publication type:
- Article