Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Matthew M Demczko"'
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 102-109 (2024)
Abstract Ferredoxin‐2 (FDX2) is an electron transport protein required for iron–sulfur clusters biosynthesis. Pathogenic variants in FDX2 have been associated with autosomal recessive FDX2‐related disorder characterized by mitochondrial myopath
Externí odkaz:
https://doaj.org/article/58f5ede61b154c5a8b176c8c42ec6992
Autor:
Parith Wongkittichote, Rebecca D Ganetzky, Matthew M Demczko, Xinying Hong, Miao He, Stephen R Master
Publikováno v:
Clinical Chemistry. 69:661-664
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65e54616bb8e47676f77a76359c12210
https://doi.org/10.1093/clinchem/hvad039
https://doi.org/10.1093/clinchem/hvad039
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:1201-1205
Objectives: Craniosynostosis may be a rare but severe complication of Fanconi–Bickel syndrome (FBS). Both conditions can be associated with feeding intolerance in young children. Prompt recognition and correction of increased intracranial pressure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4a8d5cd0e6f9926859ff28df173cc7d
https://doi.org/10.1515/jpem-2022-0150
https://doi.org/10.1515/jpem-2022-0150
Autor:
Devyani Chowdhury, Matthew M. Demczko, Erika A. Hollinger, Michael A. Horst, Jacob Freedman, Katie B. Williams
Publikováno v:
Pediatrics. 148
BACKGROUND AND OBJECTIVESConventional timing of newborn pulse oximetry screening is not ideal for infants born out-of-hospital. We implemented a newborn pulse oximetry screen to align with typical midwifery care and measure its efficacy at detecting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e62412c719ab7b4774bdf995a03364a
https://doi.org/10.1542/peds.2020-048785
https://doi.org/10.1542/peds.2020-048785
Autor:
Marina Cella, Mary C. Dinauer, Elaine Kulm, Michelle A. Ritter, Jahnavi Aluri, Alicia Bach, Elise M. Rizzi, Christina Bemrich-Stolz, Maleewan Kitcharoensakkul, Magdalena Walkiewicz, Jack J. Bleesing, Yi Shan Lee, James A. Connelly, Amy M. Scurlock, Laura G. Schuettpelz, Marwan Shinawi, Shirley M. Abraham, Saara Kaviany, V. Koneti Rao, Jonathan D. Powell, Jeffrey J. Bednarski, Peggy L. Kendall, Luana Chiquetto Paracatu, Raphaela Goldbach-Mansky, Christopher D. Putnam, Michael T. Harmon, Adriana Almeida de Jesus, Scott W. Canna, Stacie M. Jones, Morgan Similuk, Matthew M. Demczko, Nermina Saucier, Suk See De Ravin, Michael Joyce, Molly P. Keppel, Megan A. Cooper
Publikováno v:
Blood
Inborn errors of immunity (IEI) are a genetically heterogeneous group of disorders with a broad clinical spectrum. Identification of molecular and functional bases of these disorders is important for diagnosis, treatment, and an understanding of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e50b0a6c294707b50db04616dd0efc
https://pubmed.ncbi.nlm.nih.gov/33956066
https://pubmed.ncbi.nlm.nih.gov/33956066
Autor:
Karlla W. Brigatti, John D. Overton, Mark Yoder, Anthony Antonellis, Vincent J Carson, Erick D Martinez, Lili Miles, Kadakkal Radhakrishnan, Vinay Kandula, Aris Baras, Claudia Gonzaga-Jauregui, Laurie B. Griffin, Jeffrey G. Reid, Robert N. Jinks, Erik G. Puffenberger, Katie B. Williams, Katryn N. Furuya, Olivia Wenger, Kevin A. Strauss, Matthew M Demczko, Laura Poskitt, Michael D Fox
Publikováno v:
Human Molecular Genetics. 28:525-538
Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven rel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767dc4e7363c70a5dac3fb19cb3fbc67
https://doi.org/10.1093/hmg/ddy344
https://doi.org/10.1093/hmg/ddy344
Autor:
Jeffrey W. Campbell, Colleen Ditro, Kenneth J. Rogers, Leslie E. Grissom, Arjun A. Dhawale, Michael B. Bober, Matthew M. Demczko, William G. Mackenzie
Publikováno v:
Journal of Pediatric Orthopaedics. 33:91-98
Background: Skeletal dysplasias may be associated with cervical spinal instability or stenosis. Cervical spine flexion-extension plain radiographs in children with skeletal dysplasia are difficult to interpret. The purpose of this study was to review
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::287f2182304148be9e1060969e827ec8
https://doi.org/10.1097/bpo.0b013e318279c51f
https://doi.org/10.1097/bpo.0b013e318279c51f
Publikováno v:
Developmental Biology. 331(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f857bf32ca502323b920729c671e54f
Autor:
Semenetz Z; Sidney Kimmel Medical College, Thomas Jefferson University/Nemours Children's Hospital, Wilmington, DE, USA.; Primary Care, Nemours Children's Health, Newark, DE, USA., Lewis AM; Center for Health Care Delivery Science, Nemours Children's Hospital, Wilmington, DE, USA., Arasteh K; Center for Health Care Delivery Science, Nemours Children's Hospital, Wilmington, DE, USA., Liu T; Diagnostic Referral Service, Nemours Children's Hospital, Wilmington, DE, USA., Demczko M; Diagnostic Referral Service, Nemours Children's Hospital, Wilmington, DE, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Publikováno v:
Clinical pediatrics [Clin Pediatr (Phila)] 2024 Nov; Vol. 63 (11), pp. 1537-1543. Date of Electronic Publication: 2024 Jan 30.
Autor:
Lehtokari VL; Folkhälsan Research Center, 00290 Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, 00014 University of Helsinki, Finland. Electronic address: vilma.lehtokari@helsinki.fi., Sagath L; Folkhälsan Research Center, 00290 Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, 00014 University of Helsinki, Finland., Davis M; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands WA 6009, SA., Ho D; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands WA 6009, SA., Kiiski K; Folkhälsan Research Center, 00290 Helsinki, Finland; Laboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center, 00029 Helsinki University Hospital and 00014 University of Helsinki, Helsinki, Finland., Kettunen K; Laboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center, 00029 Helsinki University Hospital and 00014 University of Helsinki, Helsinki, Finland., Demczko M; Division of Diagnostic Referral Services, Nemours Children's Hospital, Wilmington, DE 19803, United States., Stein R; Genetics Unit, Schneider Children's Medical Center, Petach Tikva 4920235, Israel., Vatta M; Invitae Corporation, San Francisco, CA 94103, United States., Winder TL; Invitae Corporation, San Francisco, CA 94103, United States., Shohet A; Genetics Unit, Schneider Children's Medical Center, Petach Tikva 4920235, Israel., Orenstein N; Genetics Unit, Schneider Children's Medical Center, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel., Krcho P; Department of Neonatology, Pavol Jozef Safarik University, 041 80 Košice, Slovakia., Bohuš P; Department of Pathology, L. Pasteur University Hospital, 040 11 Košice, Slovakia., Huovinen S; Department of Pathology, Fimlab Laboratories, Tampere University Hospital, 33101 Tampere, Finland., Udd B; Folkhälsan Research Center, 00290 Helsinki, Finland; Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital, 33520 Tampere, Finland; Department of Neurology, Vaasa Central Hospital, 65130 Vaasa, Finland., Pelin K; Folkhälsan Research Center, 00290 Helsinki, Finland; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, 00014 University of Helsinki, Finland., Laing NG; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands WA 6009, SA; Harry Perkins Institute of Medical Research, and University of Western Australia Centre for Medical Research, Nedlands Western Australia 6009, Australia., Wallgren-Pettersson C; Folkhälsan Research Center, 00290 Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, 00014 University of Helsinki, Finland.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 32-40. Date of Electronic Publication: 2023 Nov 30.