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Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10415-5
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- Article
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10415-5
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- Publication type:
- Article
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
- Published in:
- 2005
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- Publication type:
- journal article
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
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- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 1, p. 69, doi. 10.4274/jcrpe.1835
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- Article
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.
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- Journal of Child Neurology, 2022, v. 37, n. 4, p. 237, doi. 10.1177/08830738211065317
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- Article
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 1884, doi. 10.3390/ijms24031884
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- Article
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 607, doi. 10.1007/s00439-021-02332-w
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- Article
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3229, doi. 10.1002/ajmg.a.62959
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- Article
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 579, doi. 10.1002/ajmg.a.61413
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- Article
Clinical characterization of a PUF60 variant in a patient with Dubowitz‐like syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 130, doi. 10.1002/ajmg.a.60691
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- Article
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1514, doi. 10.1002/ajmg.a.38208
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- Article
Growth charts for individuals with rhizomelic chondrodysplasia punctata.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 108, doi. 10.1002/ajmg.a.37961
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- Publication type:
- Article
Congenital Heart Defects Common in Rhizomelic Chondrodysplasia Punctata.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 270, doi. 10.1002/ajmg.a.37404
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- Publication type:
- Article
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3160, doi. 10.1002/ajmg.a.34331
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- Publication type:
- Article
Mutations in the gene encoding 3β-hydroxysteroid-Δ<sup>8</sup>,Δ<sup>7</sup>-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
- Published in:
- Nature Genetics, 1999, v. 22, n. 3, p. 291, doi. 10.1038/10357
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- Article
From Expressed Sequence Tags to Peroxisome Biogenesis Disorder Genes.
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- Annals of the New York Academy of Sciences, 1996, v. 804, n. 1, p. 516, doi. 10.1111/j.1749-6632.1996.tb18641.x
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- Article
Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels.
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- Journal of Magnetic Resonance Imaging, 2006, v. 23, n. 3, p. 404, doi. 10.1002/jmri.20515
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- Article
Metabolites in ventricular cerebrospinal fluid detected by proton magnetic resonance spectroscopic imaging.
- Published in:
- 2004
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- Publication type:
- journal article
The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.
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- EMBO Reports, 2021, v. 22, n. 10, p. 1, doi. 10.15252/embr.202051991
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- Article
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis.
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- Pflügers Archiv: European Journal of Physiology, 2004, v. 448, n. 4, p. 438, doi. 10.1007/s00424-004-1278-1
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- Publication type:
- Article
Clinical utility of methionine restriction in adenosine kinase deficiency.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 52, doi. 10.1002/jmd2.12238
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- Article
Drug discovery for X‐linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long‐chain fatty acids.
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- Journal of Cellular Biochemistry, 2021, v. 122, n. 10, p. 1337, doi. 10.1002/jcb.30014
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- Article
Zellweger spectrum disorder patient–derived fibroblasts with the PEX1‐Gly843Asp allele recover peroxisome functions in response to flavonoids.
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- Journal of Cellular Biochemistry, 2019, v. 120, n. 3, p. 3243, doi. 10.1002/jcb.27591
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- Article
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
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- Journal of Cellular Biochemistry, 2011, v. 112, n. 5, p. 1250, doi. 10.1002/jcb.22979
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- Article
Progressive cavitating leukoencephalopathy: A novel childhood disease.
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- Annals of Neurology, 2005, v. 58, n. 6, p. 929
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- Article
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1159, doi. 10.1002/jimd.12682
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- Publication type:
- Article
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1021, doi. 10.1002/jimd.12349
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- Article
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 107, doi. 10.1002/jimd.12032
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- Article
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 839, doi. 10.1007/s10545-014-9802-8
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- Article
Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.
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- 2018
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- Publication type:
- journal article
Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 12, p. 1891, doi. 10.3390/cells11121891
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- Article
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1987, doi. 10.1002/ajmg.a.34094
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- Article
Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
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- Human Mutation, 2018, v. 39, n. 4, p. 527, doi. 10.1002/humu.23394
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- Article
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
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- Human Mutation, 2012, v. 33, n. 1, p. 189, doi. 10.1002/humu.21623
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- Publication type:
- Article
A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212
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- Article
PPARα-mediated peroxisome induction compensates PPARγ-deficiency in bronchiolar club cells.
- Published in:
- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0203466
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- Article
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
- Published in:
- Neurogenetics, 2022, v. 23, n. 2, p. 115, doi. 10.1007/s10048-022-00684-7
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- Publication type:
- Article
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.
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- Neurogenetics, 2022, v. 23, n. 2, p. 151, doi. 10.1007/s10048-022-00683-8
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- Publication type:
- Article
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
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- Neurogenetics, 2014, v. 15, n. 3, p. 161, doi. 10.1007/s10048-014-0412-2
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- Publication type:
- Article
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
- Published in:
- Human Mutation, 2002, v. 20, n. 4, p. 284, doi. 10.1002/humu.10124
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- Publication type:
- Article
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
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- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 7, p. 462, doi. 10.1002/acn3.73
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- Publication type:
- Article
An isoform of Pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1195, doi. 10.1093/hmg/7.8.1195
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- Article
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 72, doi. 10.1186/1471-2350-13-72
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- Publication type:
- Article