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1 . Academic Journal
Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals.
저자
by
Stepien, Karolina M.
;
Žnidar, Irena
;
Kieć-Wilk, Beata
;
Jones, Angel
;
Castillo-García, Daniela
, et al.
소스
Frontiers in Pediatrics; 2024, p1-12, 12p
Web of Science
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7 . Academic Journal
Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.
저자
by
Cerón‐Rodríguez, Magdalena
;
Castillo‐García, Daniela
;
Acosta‐Rodríguez‐Bueno, Carlos‐Patricio
;
Aguirre‐Hernández, Jesús
;
Murillo‐Eliosa, Juan‐Rafael
, et al.
소스
Molecular Genetics & Genomic Medicine
. Jul2022, Vol. 10 Issue 7, p1-9. 9p.
Open Access (Wiley)
Web of Science
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7 . Academic Journal
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
저자
by
Istaiti, Majdolen
;
Revel‐Vilk, Shoshana
;
Becker‐Cohen, Michal
;
Dinur, Tama
;
Ramaswami, Uma
, et al.
소스
American Journal of Hematology; May2021, Vol. 96 Issue 5, p545-551, 7p
Full Text (Wiley)
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7 . Academic Journal
Clinical Spectrum of COVID-19 in a Mexican Pediatric Population.
저자
by
Bustos-Cordova, Edgar
;
Castillo-Garcia, Daniela
;
Ceron-Rodriguez, Magdalena
;
Soler-Quinones, Nadia
.
소스
Indian Pediatrics; Feb2021, Vol. 58 Issue 2, p126-128, 3p
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6 . Academic Journal
A novel nonsense LAMP2 variant associated with Danon disease in a pediatric male: A case report.
저자
by
Castillo-Garcia, Daniela
;
Cerón-Rodriguez, Magdalena
;
Acosta-Rodriguez-Bueno, Carlos Patricio
;
Aguirre-Hernández, Jesús
;
Almanza-Aranda, Judith
, et al.
소스
Molecular Genetics & Metabolism
. Feb2021, Vol. 132 Issue 2, pS23-S24. 2p.
Full Text (ScienceDirect)
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7 . Academic Journal
Female child with Fabry disease and two other genetic diseases, spherocytosis, and congenital hypothyroidism, A case report.
저자
by
Cerón-Rodriguez, Magdalena
;
Castillo-García, Daniela
;
Acosta-Rodriguez-Bueno, Carlos Patricio
;
Baeza-Capetillo, Patricia
;
Aguirre-Hernández, Jesús
.
소스
Molecular Genetics & Metabolism
. Feb2021, Vol. 132 Issue 2, pS24-S24. 1p.
Full Text (ScienceDirect)
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7 . Academic Journal
Impact of SARS-CoV-2 pandemic on the care for patients with lysosomal disorders: The experience of a Mexican pediatric center.
저자
by
Acosta-Rodriguez-Bueno, Carlos Patricio
;
Cerón-Rodriguez, Magdalena
;
Castillo-Garcia, Daniela
.
소스
Molecular Genetics & Metabolism
. Feb2021, Vol. 132 Issue 2, pS13-S13. 1p.
Full Text (ScienceDirect)
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5 . Academic Journal
Are genotype and biomarkers enough to initiate enzyme replacement therapy in Fabry disease? The value of the biopsy.
저자
by
Cerón-Rodriguez, Magdalena
;
Castillo-García, Daniela
.
소스
Molecular Genetics & Metabolism
. Feb2020, Vol. 129 Issue 2, pS38-S38. 1p.
Full Text (ScienceDirect)
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4 . Academic Journal
Gaucheromas a complication in 2 children despite enzyme replacement therapy.
저자
by
Castillo-García, Daniela
;
Cerón-Rodriguez, Magdalena
;
Acosta-Rodriguez-Bueno, Carlos Patricio
.
소스
Molecular Genetics & Metabolism
. Feb2020, Vol. 129 Issue 2, pS38-S38. 1p.
Full Text (ScienceDirect)
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5 . Academic Journal
Identification of a novel GLA mutation (V269L) in a Mexican 2-year-old male with Fabry nephropathy: A case report.
저자
by
Cerón-Rodríguez, Magdalena
;
Castillo-García, Daniela
;
Amici-García, Alba Valentina
.
소스
Molecular Genetics & Metabolism
. Feb2019, Vol. 126 Issue 2, pS37-S37. 1p.
Full Text (ScienceDirect)
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