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The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases.
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 149, doi. 10.1002/mdc3.12573
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- Publication type:
- Article
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
- Published in:
- 2012
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- Publication type:
- journal article
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
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.
- Published in:
- 2007
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- Publication type:
- journal article
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
- Published in:
- 2017
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- Publication type:
- journal article
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 45, doi. 10.1186/1750-1172-9-45
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- Publication type:
- Article
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.
- Published in:
- 2014
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- Publication type:
- journal article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-6
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- Publication type:
- Article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
- Published in:
- 2013
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- Publication type:
- journal article
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
- Published in:
- 2012
- By:
- 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
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1072
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- Publication type:
- Article
Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1325, doi. 10.1002/ajmg.a.63155
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- Publication type:
- Article
Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3770, doi. 10.1002/ajmg.a.62450
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- Publication type:
- Article
Autosomal‐dominant WFS1‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 528, doi. 10.1002/ajmg.a.61945
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- Publication type:
- Article
Congenital microgastria‐limb reduction association: A case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2976, doi. 10.1002/ajmg.a.61872
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- Publication type:
- Article
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 640, doi. 10.1002/ajmg.a.61467
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- Publication type:
- Article
Holoprosencephaly in Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 441, doi. 10.1002/ajmg.a.61454
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- Publication type:
- Article
Prenatal and perinatal history in Kabuki Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 85, doi. 10.1002/ajmg.a.61387
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- Publication type:
- Article
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1866, doi. 10.1002/ajmg.a.61291
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- Publication type:
- Article
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
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- Publication type:
- Article
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.
- Published in:
- Laryngoscope, 2010, v. 120, n. 2, p. 359, doi. 10.1002/lary.20689
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- Publication type:
- Article
Persistent Lactic Acidosis in an Infant With Milk Protein Allergy.
- Published in:
- 2023
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- Publication type:
- Case Study
Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0133813
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- Publication type:
- Article
Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 6, p. 1951, doi. 10.1007/s11011-017-0092-3
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- Publication type:
- Article
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1172, doi. 10.1038/ejhg.2014.12
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- Publication type:
- Article
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66401-2
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- Publication type:
- Article
Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation.
- Published in:
- FASEB Journal, 2021, v. 35, n. 11, p. 1, doi. 10.1096/fj.202100823R
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- Publication type:
- Article
Dark Colored Urine in a 2-Year-Old Child.
- Published in:
- Clinical Chemistry, 2017, v. 63, n. 3, p. 786, doi. 10.1373/clinchem.2016.269910
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- Publication type:
- Article
Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
- Published in:
- Clinical Chemistry, 2016, v. 62, n. 11, p. 1430, doi. 10.1373/clinchem.2016.258459
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- Publication type:
- Article
Anderson-Fabry Disease in Heterozygous Females.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 39
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- Publication type:
- Article
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 13, p. 2251, doi. 10.1093/hmg/ddad059
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- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 4, p. 482, doi. 10.1002/ana.21689
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- Publication type:
- Article
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 4, p. 557
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- Publication type:
- Article
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 880, doi. 10.1002/jimd.12225
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- Publication type:
- Article
Lyso-globotriaosylsphingosine (lyso-Gb) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 881, doi. 10.1007/s10545-012-9547-1
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- Publication type:
- Article
Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66401-2
- By:
- Publication type:
- Article
Fabry disease defined.
- Published in:
- 2004
- By:
- Publication type:
- Letter
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2937, doi. 10.1093/hmg/ddz117
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- Publication type:
- Article
Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches.
- Published in:
- Movement Disorders, 2022, v. 37, n. 3, p. 655, doi. 10.1002/mds.28951
- By:
- Publication type:
- Article
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.867337
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- Publication type:
- Article
Methylation Status in Females With Rett Syndrome.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 5, p. 635, doi. 10.1177/0883073807302616
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- Publication type:
- Article
Practical Management of Combined Methylmalonicaciduria and Homocystinuria.
- Published in:
- Journal of Child Neurology, 2002, v. 17, n. 5, p. 353, doi. 10.1177/088307380201700508
- By:
- Publication type:
- Article
Mitichondrial DNA Depletion Associated With Partial Complex II and IV Deficiencies and 3-Methylglutaconic Aciduria.
- Published in:
- Journal of Child Neurology, 2001, v. 16, n. 2, p. 136, doi. 10.1177/088307380101600214
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- Publication type:
- Article
The tale of two genes: from nextgeneration sequencing to phenotype.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 2, p. 1, doi. 10.1101/mcs.a004846
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- Publication type:
- Article
KMT2D regulates activation, localization, and integrin expression by T-cells.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1341745
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- Publication type:
- Article
From Genotype to Phenotype—A Review of Kabuki Syndrome †.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101761
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- Publication type:
- Article
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189324
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- Publication type:
- Article