about
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family.Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.Incidence of maple syrup urine disease in Portugal.Functional correction by antisense therapy of a splicing mutation in the GALT geneRetrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryThe GM2 ganglioside inhibits iNKT cell responses in a CD1d-dependent mannerFollow-up of fatty acid β-oxidation disorders in expanded newborn screening eraTargeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunctionMolecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency
P50
Q30431656-32E0234B-5960-4213-BB40-ABB4D2422853Q31132380-FC79E763-2701-4F70-95FF-97A7972D84C6Q33444791-84110EC9-EC8B-4C01-9DD0-E655F73269B4Q37751506-9BEC1ACD-3DC3-465F-AAC3-3E094F07457CQ42736904-EACE2685-8513-43F0-BAEF-8AE9B89D06D4Q44734145-3D8D78DB-061D-494D-A7B3-C49A7555FBA0Q46362161-8F1B1CB1-05DE-4353-B1F6-5FC726761769Q46656169-D17D7474-F294-418E-8682-01B11CBD74F0Q50883386-AB4AF4CD-CCBE-4FF6-88D7-524E6EAB87D4Q52803035-08F7BC6C-79B9-4C7D-8EE7-3B1E8670BB17Q64040510-238B389B-4840-49B0-B2A4-CD2B8CFF5E21Q90372881-7CBDCA36-609B-428D-8258-A762B1A22296Q90930921-673C8780-DCC6-43BB-B926-F2DC5E49CBCDQ92112247-3320209F-692C-427F-8179-8B9B1100D4F9Q92655493-192EBFE4-41BD-474C-B15F-A729258BEAF2
P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0003-3979-9924
@en
name
Ana Gaspar
@ast
Ana Gaspar
@en
Ana Gaspar
@es
Ana Gaspar
@nl
type
label
Ana Gaspar
@ast
Ana Gaspar
@en
Ana Gaspar
@es
Ana Gaspar
@nl
prefLabel
Ana Gaspar
@ast
Ana Gaspar
@en
Ana Gaspar
@es
Ana Gaspar
@nl
P106
P1153
56214005900
P21
P31
P496
0000-0003-3979-9924