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Search Results - Randon, Dévora N
Search Results - Randon, Dévora N
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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and I...
by
Di Lorenzo, Giorgia
,
Westermann, Lena M
,
Yorgan, Timur A
,
Stürznickel, Julian
,
Ludwig, Nataniel F
,
Ammer, Luise S
,
Baranowsky, Anke
,
Ahmadi, Shiva
,
Pourbarkhordariesfandabadi, Elham
,
Breyer, Sandra R
,
Board, Tim N
,
Foster, Anne
,
Mercer, Jean
,
Tylee, Karen
,
Velho, Renata Voltolini
,
Schweizer, Michaela
,
Renné, Thomas
,
Braulke, Thomas
,
Randon, Dévora N
,
Sperb-Ludwig, Fernanda
,
de Camargo Pinto, Louise Lapagesse
,
Moreno, Carolina Araujo
,
Cavalcanti, Denise P
,
Amling, Michael
,
Kutsche, Kerstin
,
Winter, Dominic
,
Muschol, Nicole M
,
Schwartz, Ida V D
,
Rolvien, Tim
,
Danyukova, Tatyana
,
Schinke, Thorsten
,
Pohl, Sandra
Published in
Genetics in medicine
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A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
by
Ludwig, Nataniel F
,
Sperb-Ludwig, Fernanda
,
Randon, Dévora N
,
Bernardi, Pricila
,
Giuliani, Liane R
,
Moreno, Carolina A
,
Cavalcanti, Denise P
,
Silva, Luiz CS da
,
Schwartz, Ida V D
Published in
Journal of inborn errors of metabolism and screening
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Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in sou...
by
Randon, Dévora N
,
Sperb-Ludwig, Fernanda
,
Vianna, Fernanda S L
,
Becker, Ana P P
,
Vargas, Carmen R
,
Sitta, Angela
,
Sant'Ana, Alexia N
,
Schwartz, Ida V D
,
Bitencourt, Fernanda H de
Published in
Genetics and molecular biology
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Mortality profile in a cohort of patients with Gaucher disease from Rio Grande do Sul, Brazil (2003−2023)
by
Teixeira, Lucas Ferreira
,
Poswar, Fabiano
,
Randon, Dévora N.
,
Schwartz, Ida Vanessa D.
Published in
Molecular genetics and metabolism
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Metab-Latam: Sharing scientific knowledge about lysosomal disorders in Latin America
by
Schwartz, Ida Vanessa D.
,
Martínez Bazán, Eliana M.
,
Randon, Dévora N.
,
Fink, Isabela A.
,
Azambuja, Fernando S.
,
Alberti, Arthur M.
Published in
Molecular genetics and metabolism
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COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective
by
Schwartz, Ida V.D.
,
Randon, Dévora N.
,
Ferraro, Lethicia C.
,
de Souza, Carolina F.M.
,
Horovitz, Dafne D.G.
,
de Sá, Natan M.
,
Brunoni, Decio
Published in
Molecular genetics and metabolism
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Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
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Mut0 Methylmalonic Acidemia
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