Found: 21
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Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3223, doi. 10.3390/ijms24043223
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- Publication type:
- Article
Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6114, doi. 10.3390/ijms21176114
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- Publication type:
- Article
Analysis of Globotriaosylceramide (Gb<sub>3</sub>) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry.
- Published in:
- Current Protocols, 2024, v. 4, n. 6, p. 1, doi. 10.1002/cpz1.1087
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- Publication type:
- Article
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
- Published in:
- International Journal of Developmental Neuroscience, 2015, v. 47, p. 119, doi. 10.1016/j.ijdevneu.2015.04.319
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- Publication type:
- Article
A survey of APC mutations in Quebec.
- Published in:
- Familial Cancer, 2011, v. 10, n. 4, p. 659, doi. 10.1007/s10689-011-9468-4
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- Publication type:
- Article
Clinical Vignette: Clinical and Cellular Manifestations of OSTM1 -Related Infantile Osteopetrosis.
- Published in:
- Journal of Bone & Mineral Research, 2008, v. 23, n. 2, p. 296, doi. 10.1359/jbmr.071015
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- Publication type:
- Article
Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old.
- Published in:
- Pediatric Radiology, 2013, v. 43, n. 9, p. 1227, doi. 10.1007/s00247-013-2658-5
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- Publication type:
- Article
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
- Published in:
- 2016
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- Publication type:
- journal article
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 540, doi. 10.1002/jimd.12203
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- Publication type:
- Article
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 107, doi. 10.1002/jimd.12032
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- Publication type:
- Article
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 423, doi. 10.1007/s10545-017-0015-9
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- Publication type:
- Article
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1272, doi. 10.1002/ajmg.a.33878
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- Publication type:
- Article
Familial deletion 18p syndrome: case report.
- Published in:
- BMC Medical Genetics, 2006, v. 7, p. 60, doi. 10.1186/1471-2350-7-60
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- Publication type:
- Article
Receptor-mediated endocytosis in kidney proximal tubules: Recent advances and hypothesis.
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- Electrophoresis, 1997, v. 18, n. 14, p. 2661, doi. 10.1002/elps.1150181423
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- Publication type:
- Article
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
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- Human Mutation, 2010, v. 31, n. 3, p. 279, doi. 10.1002/humu.21186
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- Publication type:
- Article
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
- Published in:
- Human Mutation, 2008, v. 29, n. 9, p. E150, doi. 10.1002/humu.20824
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- Publication type:
- Article
A case of hyperlysinemia identified by urine newborn screening.
- Published in:
- 2023
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- Publication type:
- Case Study
Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 46, doi. 10.1002/jmd2.12008
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- Publication type:
- Article
Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 896, doi. 10.1002/ajmg.a.37428
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- Publication type:
- Article
Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study.
- Published in:
- 2020
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- Publication type:
- journal article
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1000
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- Publication type:
- Article