Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.

Wongkittichote, Parith; Pantano, Cassandra; Bogush, Emily; Alves, Cesar Augusto P; Hong, Xinying; He, Miao; Demczko, Matthew M; Ganetzky, Rebecca D; Goldstein, Amy.

Mol Genet Metab ; 140(1-2): 107710, 2023.

Artigo em Inglês | MEDLINE | ID: mdl-37903659

2.

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.

Aluri, Jahnavi; Bach, Alicia; Kaviany, Saara; Chiquetto Paracatu, Luana; Kitcharoensakkul, Maleewan; Walkiewicz, Magdalena A; Putnam, Christopher D; Shinawi, Marwan; Saucier, Nermina; Rizzi, Elise M; Harmon, Michael T; Keppel, Molly P; Ritter, Michelle; Similuk, Morgan; Kulm, Elaine; Joyce, Michael; de Jesus, Adriana A; Goldbach-Mansky, Raphaela; Lee, Yi-Shan; Cella, Marina; Kendall, Peggy L; Dinauer, Mary C; Bednarski, Jeffrey J; Bemrich-Stolz, Christina; Canna, Scott W; Abraham, Shirley M; Demczko, Matthew M; Powell, Jonathan; Jones, Stacie M; Scurlock, Amy M; De Ravin, Suk See; Bleesing, Jack J; Connelly, James A; Rao, V Koneti; Schuettpelz, Laura G; Cooper, Megan A.

Blood ; 137(18): 2450-2462, 2021 05 06.

Artigo em Inglês | MEDLINE | ID: mdl-33512449

3.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Williams, Katie B; Brigatti, Karlla W; Puffenberger, Erik G; Gonzaga-Jauregui, Claudia; Griffin, Laurie B; Martinez, Erick D; Wenger, Olivia K; Yoder, Mark A; Kandula, Vinay V R; Fox, Michael D; Demczko, Matthew M; Poskitt, Laura; Furuya, Katryn N; Reid, Jeffrey G; Overton, John D; Baras, Aris; Miles, Lili; Radhakrishnan, Kadakkal; Carson, Vincent J; Antonellis, Anthony; Jinks, Robert N; Strauss, Kevin A.

Hum Mol Genet ; 28(4): 525-538, 2019 02 15.

Artigo em Inglês | MEDLINE | ID: mdl-30304524

4.

Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder.

Wongkittichote, Parith; Ganetzky, Rebecca D; Demczko, Matthew M; Hong, Xinying; He, Miao; Master, Stephen R.

Clin Chem ; 69(6): 661-664, 2023 06 01.

Artigo em Inglês | MEDLINE | ID: mdl-37258485

5.

A Wave.

Demczko, Matthew M.

JAMA ; 322(9): 815-816, 2019 Sep 03.

Artigo em Inglês | MEDLINE | ID: mdl-31479141

6.

Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options.

Wongkittichote, Parith; Pantano, Cassandra; He, Miao; Hong, Xinying; Demczko, Matthew M.

JIMD Rep ; 65(2): 102-109, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38444577

7.

Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?

Mackenzie, William G; Dhawale, Arjun A; Demczko, Matthew M; Ditro, Colleen; Rogers, Kenneth J; Bober, Michael B; Campbell, Jeffrey W; Grissom, Leslie E.

J Pediatr Orthop ; 33(1): 91-8, 2013 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-23232386

8.

Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report.

Demczko, Matthew M; Liu, Tullis T; Napoli, Joseph A.

J Pediatr Endocrinol Metab ; 35(9): 1201-1205, 2022 Sep 27.

Artigo em Inglês | MEDLINE | ID: mdl-35796289

9.

Newborn Pulse Oximetry for Infants Born Out-of-Hospital.

Williams, Katie B; Horst, Michael; Hollinger, Erika A; Freedman, Jacob; Demczko, Matthew M; Chowdhury, Devyani.

Pediatrics ; 148(4)2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-34531289

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