Found: 37
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The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys.
- Published in:
- 2020
- By:
- Publication type:
- letter
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 3, p. 441, doi. 10.1111/cge.12790
- By:
- Publication type:
- Article
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 5, p. 461, doi. 10.1111/cge.12756
- By:
- Publication type:
- Article
MRI and H-MRS in adenosine kinase deficiency.
- Published in:
- Neuroradiology, 2016, v. 58, n. 7, p. 697, doi. 10.1007/s00234-016-1676-z
- By:
- Publication type:
- Article
Deferasirox-induced serious adverse reaction in a pediatric patient: pharmacokinetic and pharmacogenetic analysis.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Impaired Bone Metabolism in Glycogen Storage Disease Type 1 Is Associated with Poor Metabolic Control in Type 1a and with Granulocyte Colony-Stimulating Factor Therapy in Type 1b.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 1, p. 55, doi. 10.1159/000351022
- By:
- Publication type:
- Article
Too late to say it is too early - How to get children with non-cirrhotic metabolic diseases transplanted at the right time?
- Published in:
- Pediatric Transplantation, 2012, v. 16, n. 7, p. 671, doi. 10.1111/j.1399-3046.2011.01623.x
- By:
- Publication type:
- Article
Adherence to diet and quality of life in patients with phenylketonuria.
- Published in:
- Acta Paediatrica, 2011, v. 100, n. 8, p. 1144, doi. 10.1111/j.1651-2227.2011.02227.x
- By:
- Publication type:
- Article
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, p. 201, doi. 10.1007/s10545-009-1154-4
- By:
- Publication type:
- Article
RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, p. 335, doi. 10.1007/s10545-009-1297-3
- By:
- Publication type:
- Article
Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
- Published in:
- 2009
- By:
- Publication type:
- Correction notice
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 5, p. 630, doi. 10.1007/s10545-009-1189-6
- By:
- Publication type:
- Article
OTHER LYSOSOMAL STORAGE DISEASES.
- Published in:
- Acta Paediatrica, 2008, p. 119, doi. 10.1111/j.1651-2227.2008.00657_4.x
- By:
- Publication type:
- Article
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 330, doi. 10.1002/humu.9519
- By:
- Publication type:
- Article
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 1, p. 64, doi. 10.1007/s10545-006-0138-x
- By:
- Publication type:
- Article
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 1, p. 186, doi. 10.1007/s10545-006-0120-7
- By:
- Publication type:
- Article
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
- Published in:
- 2005
- By:
- Publication type:
- Report
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
- Published in:
- Clinical Endocrinology, 2005, v. 63, n. 1, p. 19, doi. 10.1111/j.1365-2265.2005.02292.x
- By:
- Publication type:
- Article
Increased NO production in lysinuric protein intolerance.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 123, doi. 10.1007/s10545-005-5954-x
- By:
- Publication type:
- Article
Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia.
- Published in:
- Acta Paediatrica, 2004, v. 93, n. s445, p. 18, doi. 10.1111/j.1651-2227.2004.tb03050.x
- By:
- Publication type:
- Article
Tyrosine hydroxylase deficiency causes progressive encephalopathy and Dopa-nonresponsive dystonia.
- Published in:
- 2003
- By:
- Publication type:
- Journal Article
Analysis of Sanfilippo A gene mutations in a large pedigree.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 314, doi. 10.1034/j.1399-0004.2003.00053.x
- By:
- Publication type:
- Article
Mutation analysis in 16 patients with mtDNA depletionCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #606 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135
- By:
- Publication type:
- Article
Mutation analysis in 16 patients with mtDNA depletion (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #606 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135
- By:
- Publication type:
- Article
Successful pregnancy in a woman with mut<sup>−</sup> methylmalonic acidaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 2, p. 133, doi. 10.1023/A:1015632911801
- By:
- Publication type:
- Article
Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 883, doi. 10.1023/A:1013908728445
- By:
- Publication type:
- Article
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
- Published in:
- Human Mutation, 2001, v. 18, n. 5, p. 460, doi. 10.1002/humu.1221
- By:
- Publication type:
- Article
Oxidative abnormalities in Menkes disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 349, doi. 10.1023/A:1005675012708
- By:
- Publication type:
- Article
Carbohydrate-deficient glycoprotein syndromes: The Italian experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 391, doi. 10.1023/A:1005608019977
- By:
- Publication type:
- Article
N-acetylaspartylglutamate in Canavan disease: an adverse effector?
- Published in:
- 1999
- By:
- Publication type:
- journal article
Pyroglutamic aciduria and nephropathic cystinosis.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 224, doi. 10.1023/A:1005545012776
- By:
- Publication type:
- Article
Intravenous immune globulin in lysinuric protein intolerance.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 95, doi. 10.1023/A:1005383307100
- By:
- Publication type:
- Article
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 2, doi. 10.1023/A:1005397227996
- By:
- Publication type:
- Article
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.
- Published in:
- Annals of Neurology, 1997, v. 42, n. 4, p. 661, doi. 10.1002/ana.410420419
- By:
- Publication type:
- Article
Neonatal primary hyperparathyroidism masked by vitamin D deficiency.
- Published in:
- Clinical Endocrinology, 1994, v. 41, n. 4, p. 531, doi. 10.1111/j.1365-2265.1994.tb02586.x
- By:
- Publication type:
- Article
Early Introduction of Uncooked Cornstarch for the Treatment of Glycogen Storage Disease Type I.
- Published in:
- Acta Paediatrica, 1990, v. 79, n. 10, p. 978, doi. 10.1111/j.1651-2227.1990.tb11366.x
- By:
- Publication type:
- Article