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Ludwig, Nataniel Floriano
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1

In vitro substrate reduction, chaperone and immunomodulatio..:

Sperb-Ludwig, Fernanda ; Ludwig, Nataniel Floriano ; Rizowy, Gustavo Mottin..
Genetics and Molecular Biology.  46 (2023)  3 suppl 1 - p. , 2023
Link: https://doi.org/10.1590/..
 
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2

Study of anesthetics for euthanasia in rats and mice: A sys..:

Tobar Leitão, Santiago Alonso ; Soares, Douglas dos Santos ; Carvas Junior, Nelson...
Life Sciences.  284 (2021)  - p. 119916 , 2021
Link: https://doi.org/10.1016/..
 
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3

Imbalanced cellular metabolism compromises cartilage homeos..:

Westermann, Lena Marie ; Fleischhauer, Lutz ; Vogel, Jonas...
Disease Models & Mechanisms.  13 (2020)  11 - p. , 2020
Link: https://doi.org/10.1242/..
 
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4

Genetic approaches for diagnosis of two Brazilian patients ..:

Schwartz, Ida Vanessa Doederlein ; Ludwig, Nataniel Floriano ; Random, Devora.
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S133-S134 , 2019
Link: https://doi.org/10.1016/..
 
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5

Next-generation sequencing corroborates a probable de novo ..:

Ludwig, Nataniel Floriano ; Sperb-Ludwig, Fernanda ; Velho, Renata Voltolini.
Molecular Genetics and Metabolism Reports.  11 (2017)  - p. 92-93 , 2017
Link: https://doi.org/10.1016/..
 
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6

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotra..:

Ludwig, Nataniel Floriano ; Velho, Renata Voltolini ; Sperb-Ludwig, Fernanda...
The International Journal of Biochemistry & Cell Biology.  92 (2017)  - p. 90-94 , 2017
Link: https://doi.org/10.1016/..
 
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7

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) trans..:

Velho, Renata Voltolini ; Ludwig, Nataniel Floriano ; Alegra, Taciane...
Journal of Human Genetics.  61 (2016)  6 - p. 555-560 , 2016
Link: https://doi.org/10.1038/..
 
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8

A de novo or germline mutation in a family with Mucolipidos..:

Velho, Renata Voltolini ; Alegra, Taciane ; Sperb, Fernanda...
Molecular Genetics and Metabolism Reports.  1 (2014)  - p. 98-102 , 2014
Link: https://doi.org/10.1016/..
 
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9

Pathogenic variants in GNPTAB and GNPTG encoding distinct s..:

Di Lorenzo, Giorgia ; Westermann, Lena M. ; Yorgan, Timur A....
Genetics in Medicine.  23 (2021)  12 - p. 2369-2377 , 2021
Link: https://doi.org/10.1038/..
 
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10

A decade of molecular diagnosis of Mucolipidosis II and III..:

Ludwig, Nataniel F ; Sperb-Ludwig, Fernanda ; Randon, Dévora N...
Journal of Inborn Errors of Metabolism and Screening.  9 (2021)  - p. , 2021
Link: https://doi.org/10.1590/..
 
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11

The lysosomal storage disorders mucolipidosis type II, type..:

Velho, Renata Voltolini ; Harms, Frederike L. ; Danyukova, Tatyana...
Human Mutation.  , 2019
Link: https://doi.org/10.1002/..
 
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12

Metab-Latam, four months of experience in the email discuss..:

Schwartz, Ida V.D. ; Ludwig, Nataniel ; Colonetti, Karina
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S96-S97 , 2021
Link: https://doi.org/10.1016/..
 
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13

A decade of molecular diagnosis of mucolipidosis II and III..:

Schwartz, Ida V.D. ; Ludwig, Nataniel ; Sperb-Ludwig, Fernanda...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S97 , 2021
Link: https://doi.org/10.1016/..
 
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14

Quantification of glycosaminoglycans by liquid chromatograp..:

Ludwig, Nataniel ; Kubaski, Francyne ; Sperb-Ludwig, Fernanda...
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S102 , 2020
Link: https://doi.org/10.1016/..
 
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15

Humoral immune response in adult Brazilian patients with Mu..:

Sperb-Ludwig, Fernanda ; Alegra, Taciane ; Velho, Renata Voltolini...
Genetics and Molecular Biology.  42 (2019)  3 - p. 571-573 , 2019
Link: https://doi.org/10.1590/..
 
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