Found: 23
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Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 1, p. 61, doi. 10.1038/sj.ejhg.5200153
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- Publication type:
- Article
Diagnosis and management of patients with mitochondrial disease.
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- British Columbia Medical Journal, 2011, v. 53, n. 4, p. 177
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- Article
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
- Published in:
- 2008
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- Publication type:
- journal 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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- Article
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
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- Journal of Pathology, 2011, v. 225, n. 1, p. 12, doi. 10.1002/path.2941
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- 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
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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- Article
Infantile cardioencephalopathy due to a COX15 gene defect: Report and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 840, doi. 10.1002/ajmg.a.33881
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- 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
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: Insights from in vitro expression (For the PKU Special Issue).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 357, doi. 10.1002/humu.10197
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- Article
PAHdb 2003: What a locus-specific knowledgebase can do (For the PKU Special Issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 333, doi. 10.1002/humu.10200
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- Publication type:
- Article
PAHdb 2003: What a locus?specific knowledgebase can doFor the PKU Special Issue.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 333, doi. 10.1002/humu.10200
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- Publication type:
- Article
How PAH gene mutations cause hyper?phenylalaninemia and why mechanism matters: Insights from in vitro expressionFor the PKU Special Issue.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 357, doi. 10.1002/humu.10197
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- Publication type:
- Article
PAHdb: A locus-specific knowledgebase.
- Published in:
- Human Mutation, 2000, v. 15, n. 1, p. 99, doi. 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P
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- Publication type:
- Article
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene ( PAH).
- Published in:
- Human Mutation, 1998, v. 12, n. 5, p. 344, doi. 10.1002/(SICI)1098-1004(1998)12:5<344::AID-HUMU8>3.0.CO;2-D
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- Publication type:
- Article
In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function.
- Published in:
- Human Mutation, 1998, v. 11, n. 1, p. 4, doi. 10.1002/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L
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- Publication type:
- Article
Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 6, p. 565, doi. 10.1111/j.1469-8749.2010.03907.x
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- Publication type:
- Article
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 17, p. 3868, doi. 10.3390/jcm10173868
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- Article
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
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- Annals of Neurology, 2009, v. 65, n. 5, p. 550, doi. 10.1002/ana.21568
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- Publication type:
- Article
6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
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- Annals of Neurology, 2005, v. 58, n. 1, p. 164
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- Publication type:
- Article
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1000
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- Publication type:
- Article
Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.
- Published in:
- Cephalalgia, 2011, v. 31, n. 15, p. 1580, doi. 10.1177/0333102411420584
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- Publication type:
- Article
Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.
- Published in:
- Cephalalgia, 2011, v. 31, n. 15, p. 1580, doi. 10.1177/0333102411420584
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- Publication type:
- Article