Results 161 to 170 of about 113,820 (337)

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. [PDF]

, 1986
Peter T. Clayton, I Smith, BN Harding, Κ. Hyland, J V Leonard, R.J. Leeming   +5 more
openalex   +1 more source

Interpreting whole-genome sequencing data during neonatal Klebsiella oxytoca complex outbreak management. [PDF]

Antimicrob Resist Infect Control
Minotti C, Robinson E, Schlaepfer P, Pohl C, Goldenberger D, Schulzke SM, Keller PM, Bielicki JA.   +7 more
europepmc   +1 more source

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

ACP Broadsheet 120: January 1989. Guide to diagnosis of inborn errors of metabolism in district general hospitals. [PDF]

, 1989
A Green
openalex   +1 more source

Reducing Time to Initiation of Therapeutic Hypothermia in Inborn Infants with Hypoxic-ischemic Encephalopathy. [PDF]

Pediatr Qual Saf
Carlson A, Vale A, Bell T, Limpose K, Piazza A, Sewell EK.   +5 more
europepmc   +1 more source

Economic Inequalities and Justice: Plato and Rawls [PDF]

, 2018
Santas, Gerasimos
core  

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source