অনুসন্ধান ফলাফলগুলি - Louise L. de Camargo Pinto
- প্রদর্শন 1 - 4 ফলাফল এর 4
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Elevated <scp>holo‐</scp>transcobalamin in Gaucher disease type <scp>II</scp>: A case report অনুযায়ী Suélen Porto Basgalupp, Karina Carvalho Donis, Marina Siebert, Filippo Pinto e Vairo, Osvaldo Alfonso Pinto Artigalás, Louise L. de Camargo Pinto, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Döederlein Schwartz
প্রকাশিত 2021Revisão -
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GBA1 variants in Brazilian Gaucher disease patients অনুযায়ী Suélen Porto Basgalupp, Vivian Altmann, Filippo Pinto e Vairo, Ida Vanessa Döederlein Schwartz, Marina Siebert, Renata Cravo, Erlane Marques Ribeiro, Augusto C. dos Santos, Louise L. de Camargo Pinto, Carolina C. Militão, Luiz Fernando Andrade
প্রকাশিত 2023Artigo -
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Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients অনুযায়ী Taciane Borsatto, Fernanda Sperb‐Ludwig, Louise L. de Camargo Pinto, Gisele Rozone de Luca, Francisca Lígia Cirilo Carvalho, Carolina FM De Souza, Paula FV De Medeiros, Charles Marques Lourenço, Reinaldo LO Filho, Eurico Camargo Neto, Pricila Bernardi, Sandra Leistner‐Segal, Ida Vanessa Döederlein Schwartz
প্রকাশিত 2014Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Medicine
Allele
Biology
Gene
Genetics
Internal medicine
Disease
Glucocerebrosidase
Allele frequency
Ascites
Asymptomatic
Asymptomatic carrier
Biotinidase deficiency
Cholestasis
DNA sequencing
Endocrinology
Exon
Expressivity
Fabry disease
Gastroenterology
Genotype
Glucocerebroside
Hepatosplenomegaly
Heterozygote advantage
Immunology
Intron
Loss of heterozygosity
Newborn screening
Penetrance
Phenotype