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List of works by Nataniel Floriano Ludwig

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.

scientific article published on 27 February 2014

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations

scientific article

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

scientific article

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

scientific article published on 01 July 2019

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

scientific article

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

scientific article published on 13 April 2019

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