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Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
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- Movement Disorders, 2010, v. 25, n. 11, p. 1605, doi. 10.1002/mds.23134
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- Publication type:
- Article
Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients.
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- Movement Disorders, 2008, v. 23, n. 16, p. 2392, doi. 10.1002/mds.22313
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- Publication type:
- Article
Therapy for the mucopolysaccharidoses.
- Published in:
- 2011
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- Publication type:
- Journal Article
Therapy for the mucopolysaccharidoses.
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- Rheumatology, 2011, v. 50, n. suppl_5, p. v49, doi. 10.1093/rheumatology/ker396
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- Publication type:
- Article
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
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- Nutrients, 2021, v. 13, n. 11, p. 3828, doi. 10.3390/nu13113828
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- Article
Betaine anhydrous in homocystinuria: results from the RoCH registry.
- Published in:
- 2019
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- Publication type:
- journal article
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.
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- 2018
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- Publication type:
- journal article
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
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- 2022
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- Publication type:
- journal article
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140
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- Publication type:
- Article
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134
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- Publication type:
- Article
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 133, doi. 10.1038/ejhg.2008.174
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- Publication type:
- Article
Successful treatment of congenital hyperinsulinism with long-acting release octreotide.
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- European Journal of Endocrinology, 2012, v. 166, n. 2, p. 333, doi. 10.1530/EJE-11-0874
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- Publication type:
- Article
Mucopolysaccharidosis type I and craniosynostosis.
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- Acta Neurochirurgica, 2013, v. 155, n. 10, p. 1973, doi. 10.1007/s00701-013-1831-9
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- Publication type:
- Article
Nephrological abnormalities in patients with transaldolase deficiency.
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- Nephrology Dialysis Transplantation, 2012, v. 27, n. 8, p. 3224, doi. 10.1093/ndt/gfs061
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- Publication type:
- Article
Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.
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- Prenatal Diagnosis, 2008, v. 28, n. 5, p. 460, doi. 10.1002/pd.2002
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- Publication type:
- Article
Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.
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- Diagnostics (2075-4418), 2020, v. 10, n. 1, p. 5, doi. 10.3390/diagnostics10010005
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- Publication type:
- Article
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.
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- Human Genetics, 2023, v. 142, n. 10, p. 1429, doi. 10.1007/s00439-023-02595-5
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- Publication type:
- Article
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.
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- 2017
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- Publication type:
- journal article
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
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- 2016
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- Publication type:
- journal article
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.
- Published in:
- 2016
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- Publication type:
- journal article
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
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- 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.
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- 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
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0259-0
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- Publication type:
- Article
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0244-7
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- Publication type:
- Article
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-155
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- Publication type:
- Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
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- 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
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
- Published in:
- 2013
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- Publication type:
- journal article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
- Published in:
- 2013
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- Publication type:
- journal article
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 96, doi. 10.1186/1750-1172-7-96
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- Publication type:
- Article
Suggested guidelines for the diagnosis and management of urea cycle disorders.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 32, doi. 10.1186/1750-1172-7-32
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- Publication type:
- Article
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 36, doi. 10.1186/1750-1172-7-36
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- Publication type:
- Article
Congenital hyperinsulinism: current trends in diagnosis and therapy.
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- 2011
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- Publication type:
- journal article
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
- Published in:
- 2011
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- Publication type:
- journal article
Mucopolysaccharidosis VI.
- Published in:
- 2010
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- Publication type:
- journal article
Mucopolysaccharidosis VI.
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- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 5, doi. 10.1186/1750-1172-5-5
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- Publication type:
- Article
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 147, doi. 10.1002/jimd.12036
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- Publication type:
- Article
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 741, doi. 10.1007/s10545-017-0116-5
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- Publication type:
- Article
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4
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- Publication type:
- Article
Autism spectrum disorders in propionic acidemia patients.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 623, doi. 10.1007/s10545-017-0070-2
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- Publication type:
- Article
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 415, doi. 10.1007/s10545-017-0021-y
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- Publication type:
- Article
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 661, doi. 10.1007/s10545-016-9938-9
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- Publication type:
- Article
Impact of age at onset and newborn screening on outcome in organic acidurias.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 341, doi. 10.1007/s10545-015-9907-8
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- Publication type:
- Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1059, doi. 10.1007/s10545-015-9840-x
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- Publication type:
- Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1041, doi. 10.1007/s10545-015-9839-3
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- Publication type:
- Article
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
- Published in:
- 2015
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- Publication type:
- Erratum
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
- Published in:
- 2015
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- Publication type:
- Erratum
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 979, doi. 10.1007/s10545-014-9715-6
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- Publication type:
- Article
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 373, doi. 10.1007/s10545-011-9410-9
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- Publication type:
- Article
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter ( SLC6A8) deficiency syndrome.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 103, doi. 10.1007/s10545-012-9495-9
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- Publication type:
- Article
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 823, doi. 10.1007/s10545-011-9429-y
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- Publication type:
- Article