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1 . Academic Journal
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
저자
by
Francyne Kubaski
;
Alberto Burlina
;
Danilo Pereira
;
Camilo Silva
;
Zackary M. Herbst
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
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7 . Academic Journal
Newborn screening for Pompe disease in Italy: Long-term results and future challenges
저자
by
Vincenza Gragnaniello
;
Pim W.W.M. Pijnappel
;
Alessandro P. Burlina
;
Stijn L.M. In 't Groen
;
Daniela Gueraldi
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100929- (2022)
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7 . Academic Journal
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
저자
by
Francyne Kubaski
;
Alberto Burlina
;
Giulia Polo
;
Danilo Pereira
;
Zackary M. Herbst
, et al.
소스
International Journal of Neonatal Screening, Vol 8, Iss 3, p 39 (2022)
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7 . Academic Journal
Newborn screening in mucopolysaccharidoses
저자
by
Maria Alice Donati
;
Elisabetta Pasquini
;
Marco Spada
;
Giulia Polo
;
Alberto Burlina
.
소스
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 25-34 (2018)
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7 . Academic Journal
Living with phenylketonuria in adulthood: The PKU ATTITUDE study
저자
by
Chiara Cazzorla
;
Giulia Bensi
;
Giacomo Biasucci
;
Vincenzo Leuzzi
;
Filippo Manti
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 39-45 (2018)
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7 . Academic Journal
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience
저자
by
Vincenza Gragnaniello
;
Alessandro P Burlina
;
Giulia Polo
;
Antonella Giuliani
;
Leonardo Salviati
, et al.
소스
Biomolecules, Vol 11, Iss 7, p 951 (2021)
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7 . Academic Journal
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives
저자
by
Francyne Kubaski
;
Inês Sousa
;
Tatiana Amorim
;
Danilo Pereira
;
Joe Trometer
, et al.
소스
International Journal of Neonatal Screening, Vol 6, Iss 4, p 90 (2020)
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7 . Academic Journal
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature
저자
by
Vincenza Gragnaniello
;
Daniela Gueraldi
;
Laura Rubert
;
Francesca Manzoni
;
Chiara Cazzorla
, et al.
소스
International Journal of Neonatal Screening, Vol 6, Iss 4, p 85 (2020)
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7 . Academic Journal
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria
저자
by
Alberto Burlina
;
Chiara Cazzorla
;
Elisa Zanonato
;
Emanuela Viggiano
;
Ilaria Fasan
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 34-40 (2016)
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7 . Academic Journal
Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study
저자
by
Alessandro P. Burlina
;
Chiara Cazzorla
;
Pamela Massa
;
Giulia Polo
;
Christian Loro
, et al.
소스
Nutrients, Vol 11, Iss 10, p 2541 (2019)
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