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11 . Academic Journal
Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman–Diamond syndrome
저자
by
Costa, Elísio
;
Duque, Frederico
;
Oliveira, Jorge
;
Garcia, Paula
;
Gonçalves, Isabel
, et al.
소스
In
Blood Cells, Molecules and Diseases
2007 39(1):96-101
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17 . Academic Journal
GenEye24: Novel rapid screening test for the top-3 Leber's Hereditary Optic Neuropathy pathogenic sequence variants.
저자
by
Martins, Sara
;
Santos, Maria João
;
Teixeira, Márcia
;
Diogo, Luísa
;
do Carmo Macário, Maria
, et al.
소스
Mitochondrion
. Mar2023, Vol. 69, p64-70. 7p.
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17 . Academic Journal
Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review.
저자
by
Guerra, Inês M. S.
;
Ferreira, Helena B.
;
Melo, Tânia
;
Rocha, Hugo
;
Moreira, Sónia
, et al.
소스
International Journal of Molecular Sciences
. Nov2022, Vol. 23 Issue 22, p13933. 24p.
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17 . Academic Journal
Psychological Follow-Up of Late-Onset Pompe Patients and Parents' Expectations during 4 Years of Enzyme Replacement Therapy
저자
by
Rodrigues, Fidjy
;
Vaz, Catarina
;
Martins, Fátima
;
Diogo, Luísa
;
Garcia, Paula
.
소스
In
Clinical Therapeutics
2011 33(6) Supplement:S38-S38
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17 . Academic Journal
Muscular Strength and Function in Late-Onset Pompe Disease: Five-Year Follow-Up of Patients Receiving Enzyme Replacement Therapy
저자
by
Garcia, Paula
;
Castelo, Rui
;
Barbosa, Mafalda
;
Araujo, Henriqueta
;
Ribeiro, Vera
, et al.
소스
In
Clinical Therapeutics
2011 33(6) Supplement:S37-S37
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17 . Academic Journal
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.
저자
by
Gónzalez-Meneses, Antonio
;
Pineda, Mercè
;
Bandeira, Anabela
;
Janeiro, Patrícia
;
Ruiz, María Ángeles
, et al.
소스
Orphanet Journal of Rare Diseases
. 10/22/2021, Vol. 16 Issue 1, p1-9. 9p.
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17 . Academic Journal
Progressive Generalized Dystonia‐Parkinsonism in a Child with Fumaric Aciduria.
저자
by
Reis‐Carneiro, Diogo
;
Robalo, Conceição
;
Laço, Mário
;
Vidailhet, Marie
;
Diogo, Luísa
.
소스
Movement Disorders Clinical Practice
. Jul2022, Vol. 9 Issue 5, p707-709. 3p.
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17 . Academic Journal
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.
저자
by
Ferreira, Filipa
;
Azevedo, Luísa
;
Neiva, Raquel
;
Sousa, Carmen
;
Fonseca, Helena
, et al.
소스
Molecular Genetics & Genomic Medicine
. Mar2021, Vol. 9 Issue 3, p1-12. 12p.
Open Access (Wiley)
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17 . Academic Journal
Response to “In silico prediction is insufficient to assess pathogenicity of mtDNA variants”
저자
by
Bacalhau, Mafalda
;
Pratas, João
;
Simões, Marta
;
Mendes, Cândida
;
Ribeiro, Carolina
, et al.
소스
In
European Journal of Medical Genetics
January 2018 61(1):46-47
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17 . Periodical
Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children
저자
by
Guerra, Inês M. S.
;
Diogo, Luísa
;
Pinho, Marisa
;
Melo, Tânia
;
Domingues, Pedro
, et al.
소스
Journal of Proteome Research; May 2021, Vol. 20 Issue: 5 p2651-2661, 11p
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