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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
- Published in:
- 2008
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- Publication type:
- journal article
Acute pancreatitis after growth hormone treatment: disease or treatment linked?
- Published in:
- 2006
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- Publication type:
- journal article
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
- Published in:
- 2005
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- Publication type:
- journal article
Early onset Huntington disease: a neuronal degeneration syndrome.
- Published in:
- 2004
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- Publication type:
- journal article
Pearson marrow pancreas syndrome: a molecular study and clinical management.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 338, doi. 10.1111/j.1399-0004.1997.tb02484.x
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- Publication type:
- Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-52
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- Publication type:
- Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
- Published in:
- 2014
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- Publication type:
- journal article
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
- Published in:
- 2011
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- Publication type:
- journal article
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
- Published in:
- Electrophoresis, 2009, v. 30, n. 20, p. 3565, doi. 10.1002/elps.200900213
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- Publication type:
- Article
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1799, doi. 10.1002/ajmg.a.37673
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- Publication type:
- Article
Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1642, doi. 10.1002/ajmg.a.37628
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- Publication type:
- Article
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 211, doi. 10.1002/ajmg.a.36803
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- Publication type:
- Article
A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome.
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- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112950
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- Publication type:
- Article
Access to early diagnostics, intervention, and support for children with a neurobiological developmental delay or disorder.
- Published in:
- 2017
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- Publication type:
- journal article
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 41, doi. 10.1038/ejhg.2014.49
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- Publication type:
- Article
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
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- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 638, doi. 10.1038/sj.ejhg.5201813
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- Publication type:
- Article
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
- Published in:
- 2007
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- Publication type:
- Correction Notice
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 70, doi. 10.1002/jmd2.12055
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- Publication type:
- Article
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 143, doi. 10.1093/brain/awq287
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- Publication type:
- Article
Mutations in PEX10 are a cause of autosomal recessive ataxia.
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- Annals of Neurology, 2010, v. 68, n. 2, p. 259, doi. 10.1002/ana.22035
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- Publication type:
- Article
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 2, p. 177, doi. 10.1002/ana.21417
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- Publication type:
- Article
Mutation of a potassium channel–related gene in progressive myoclonic epilepsy.
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- Annals of Neurology, 2007, v. 61, n. 6, p. 579, doi. 10.1002/ana.21121
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- Publication type:
- Article
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 898, doi. 10.1002/jimd.12149
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- Publication type:
- Article
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha‐mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double‐blind, randomised, placebo‐controlled trial.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1215, doi. 10.1007/s10545-018-0185-0
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- Publication type:
- Article
Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1225, doi. 10.1007/s10545-018-0175-2
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- Publication type:
- Article
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1215, doi. 10.1007/s10545-018-0185-0
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- Publication type:
- Article
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1225, doi. 10.1007/s10545-018-0175-2
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- Publication type:
- Article
Clinical implementation of gene panel testing for lysosomal storage diseases.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.527
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- Publication type:
- Article
Influence of Botulinum Toxin Therapy on Postural Control and Lower Limb Intersegmental Coordination in Children with Spastic Cerebral Palsy.
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- Toxins, 2013, v. 5, n. 1, p. 93, doi. 10.3390/toxins5010093
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- Publication type:
- Article
How regulations of multidisciplinary diagnostic settings for children with a neurobiological developmental delay or disorder impact on integration of care: the case of Flanders, Belgium.
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- International Journal of Integrated Care (IJIC), 2018, v. 18, p. 1, doi. 10.5334/ijic.s2194
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- Publication type:
- Article
Integrated care for diagnostics along the disease trajectory of children with a neurobiological developmental delay or disorder. A network approach.
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- International Journal of Integrated Care (IJIC), 2018, v. 18, p. 1, doi. 10.5334/ijic.s2009
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- Publication type:
- Article
DGUOK-Related Mitochondrial DNA Depletion Syndrome in a Child With an Early Diagnosis of Glycogen Storage Disease.
- Published in:
- 2013
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- Publication type:
- Journal Article
Defects of Pyruvate Metabolism and the Krebs Cycle.
- Published in:
- Journal of Child Neurology, 2002, v. 17, p. 3S26
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- Publication type:
- Article
Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-t RNA Synthetase ( NARS2).
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- Human Mutation, 2015, v. 36, n. 2, p. 222, doi. 10.1002/humu.22728
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- Publication type:
- Article
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
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- Human Mutation, 2010, v. 31, n. 7, p. E1564, doi. 10.1002/humu.21282
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- Publication type:
- Article
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
- Published in:
- 2018
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- Publication type:
- journal article
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
- Published in:
- 2018
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- Publication type:
- journal article
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-91
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- Publication type:
- Article
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotypephenotype correlation in 38 classical citrullinemia patients (Communicated by Nobuyoshi Shimizu).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 24, doi. 10.1002/humu.10230
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- Publication type:
- Article
Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
- Published in:
- Human Mutation, 2000, v. 15, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K
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- Publication type:
- Article
Mutation analysis of the pyruvate dehydrogenase E<sub>1</sub>α gene in eight patients with a pyruvate dehydrogenase complex deficiency.
- Published in:
- Human Mutation, 1996, v. 7, n. 1, p. 46, doi. 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N
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- Publication type:
- Article
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 307
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- Publication type:
- Article