Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity ; volume:15 ; number:1 ; day:1 ; month:11 ; year:2020 ; pages:1-11 ; date:12.2020
Orphanet journal of rare diseases ; 15, Heft 1 (1.11.2020), 1-11, 12.2020
- Creator
-
Margutti, Ana Vitoria Barban
Silva, Wilson Araújo
Garcia, Daniel Fantozzi
Molfetta, Greice Andreotti de
Marques, Adriana Aparecida
Amorim, Tatiana
Prazeres, Vânia Mesquita Gadelha
Boy da Silva, Raquel Tavares
Miura, Irene Kazue
Seda Neto, João
Santos, Emerson de Santana
Santos, Mara Lúcia Schmitz Ferreira
Lourenço, Charles Marques
Tonon, Tássia
Sperb-Ludwig, Fernanda
Souza, Carolina Fischinger Moura de
Schwartz, Ida Vanessa Döederlein
Camelo, José Simon
- Contributor
-
SpringerLink (Online service)
- DOI
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10.1186/s13023-020-01590-7
- URN
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urn:nbn:de:101:1-2020121517543850824847
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:31 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Margutti, Ana Vitoria Barban
- Silva, Wilson Araújo
- Garcia, Daniel Fantozzi
- Molfetta, Greice Andreotti de
- Marques, Adriana Aparecida
- Amorim, Tatiana
- Prazeres, Vânia Mesquita Gadelha
- Boy da Silva, Raquel Tavares
- Miura, Irene Kazue
- Seda Neto, João
- Santos, Emerson de Santana
- Santos, Mara Lúcia Schmitz Ferreira
- Lourenço, Charles Marques
- Tonon, Tássia
- Sperb-Ludwig, Fernanda
- Souza, Carolina Fischinger Moura de
- Schwartz, Ida Vanessa Döederlein
- Camelo, José Simon
- SpringerLink (Online service)
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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
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Oral health status of children and young adults with maple syrup urine disease in Turkey
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Successful pregnancy in maple syrup urine disease: a case report and review of the literature
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The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review
Case report: maple syrup urine disease with a novel DBT gene mutation
Brain–blood amino acid correlates following protein restriction in murine maple syrup urine disease
Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease
Production and characterization of murine models of classic and intermediate maple syrup urine disease
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
A case of concurrent malnutrition in maple syrup urine disease: challenges and solutions in Indonesia
Oral health status of children and young adults with maple syrup urine disease in Turkey
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Successful pregnancy in maple syrup urine disease: a case report and review of the literature
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