Results 271 to 280 of about 1,296,099 (381)

Author Correction: A roadmap towards personalized immunology. [PDF]

NPJ Syst Biol Appl
Delhalle S, Bode SFN, Balling R, Ollert M, HeFeng FQ.   +4 more
europepmc   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

The relevance of including delirium in the assessment of sepsis-associated neurological disorders that cause changes in consciousness or confusion. [PDF]

Crit Care Sci
Castro REV, Kawai Y, Medeiros DNM, Prata-Barbosa A, Marupudi N.   +4 more
europepmc   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

Adaptation of ventilation strategies from acute RDS to severe BPD: A national multicenter survey of practices in extremely preterm infants. [PDF]

Medicine (Baltimore)
Akyildiz C, Tüzün F, Duman N, Akcan AB, Alp Ünkar Z, Aygün C, Bozdağ Ş, Bozkurt Ö, Bulut Ö, Bülbül A, Büyükeren M, Büyükkale G, Çelik Y, Çelik İH, Çetin H, Çetinkaya M, Çoban D, Egeli T, Gökmen Z, İlhan Ö, İşleyen F, Kader Ş, Kahveci H, Kanmaz G, Karadeniz L, Karagöl BS, Narli N, Okulu E, Ongun H, Özdemir M, Özdemir ÖMA, Özdemir A, Özkan H, Şimşek H, Tanriverdi S, Tarakçi N, Tekgündüz KŞ, Terek D, Uygur Ö, Varal İG, Yildirim TG, Özkan H.   +41 more
europepmc   +1 more source

The Journal of Pediatrics Educational Foundation

, 1967

openalex   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

The crucial impact of NIH funding on allergy/immunology patient care and research. [PDF]

J Allergy Clin Immunol Glob
Barrett NA, Nowak-Wegrzyn A, Bacharier LB, Bansal P, Kabbash LG, Orange JS, Williams PV, Virant FS, Davis CM, Brandt R, Fleisher TA, American Academy of Allergy, Asthma & Immunology Scientific Community Task Force for Allergy/Immunology Research.   +12 more
europepmc   +1 more source

The Journal of Pediatrics Educational Foundation

, 1969

openalex   +1 more source

A Push for Progress With Shared Decision-making in Pediatrics

Pediatrics, 2017
D. Opel
semanticscholar   +1 more source