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Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation. [electronic resource] by
- Bastos, Karina Lucio de Medeiros
- Quaio, Caio Robledo
- Lima, Fabiana Roberto
- Araújo, Iana Manuelle
- Araújo, Candice Alves Tavares
- Piazzon, Flávia Balbo
- Silva, Ismael Dale Cotrim Guerreiro da
- Benevides, Gabriel Nuncio
- Tannuri, Ana Cristina
- Tannuri, Uenis
- Azevedo, Ramiro Anthero
- Kim, Chong Ae
Producer: 20190814
In:
Clinical and molecular hepatology vol. 25
Availability: No items available.
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Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries. [electronic resource] by
- Kelmann, Samantha Vernaschi
- Quaio, Caio Robledo D'Angioli Costa
- Honjo, Rachel Sayuri
- Bertola, Debora Romeo
- Rosa Neto, Nilton Salles
- Lourenço, Charles Marques
- d'Almeida, Vânia
- Lellis, Rute Facchini
- Rivitti-Machado, Maria Cecília
- Enokihara, Milvia Maria Simões e Silva
- Michalany, Nilceo S
- Kim, Chong Ae
Producer: 20160218
In:
International journal of dermatology vol. 54
Availability: No items available.
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Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. [electronic resource] by
- Hood, Rebecca L
- Lines, Matthew A
- Nikkel, Sarah M
- Schwartzentruber, Jeremy
- Beaulieu, Chandree
- Nowaczyk, Małgorzata J M
- Allanson, Judith
- Kim, Chong Ae
- Wieczorek, Dagmar
- Moilanen, Jukka S
- Lacombe, Didier
- Gillessen-Kaesbach, Gabriele
- Whiteford, Margo L
- Quaio, Caio Robledo D C
- Gomy, Israel
- Bertola, Debora R
- Albrecht, Beate
- Platzer, Konrad
- McGillivray, George
- Zou, Ruobing
- McLeod, D Ross
- Chudley, Albert E
- Chodirker, Bernard N
- Marcadier, Janet
- Majewski, Jacek
- Bulman, Dennis E
- White, Susan M
- Boycott, Kym M
Producer: 20120619
In:
American journal of human genetics vol. 90
Availability: No items available.
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