Results 91 to 100 of about 4,846,243 (320)

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Systems biology and inborn error of metabolism: analytical strategy in investigating different biochemical/ genetic parameters

, 2023
Inborn errors of metabolism (IEM) are a group of about 500 rare genetic diseases with large diversity and complexity of the metabolic pathways involved. The result of this variability is the difficulty of establishing the correct diagnosis.
Aurora Piombarolo, Mariano Bizzarri, Antonio Angeloni, Cristiano Ialongo   +3 more
core  

Pathogenesis based Precision Therapy for Inborn Errors of Immunity

, 2022
Precision medicine aims at using target therapy on specific diseases by studying the pathogenesis and finding biomarkers. Inborn errors of immunity (IEI) are caused by single gene mutations, providing the perfect human models to study immunology.
MAO Huawei, SHU Zhou
core   +1 more source

Evaluating the Role of Genetic Testing for Inborn Errors of Immunity in Pediatric Patients with Very Early-Onset and Early-Onset Inflammatory Bowel Disease

Journal of Human Immunity
Introduction The incidence of inflammatory bowel disease (IBD) has significantly increased in developing countries over the last decade with a rising prevalence among the pediatric population. Very early-onset IBD (VEOIBD), defined as IBD in children younger than 6 years, requires a comprehensive diagnostic approach
Sarah Afzal, Elisabeth Hoyte, Rachel Bensen, David Lewis, Alka Goyal, Yael Gernez   +5 more
openaire   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Prevención de enfermedades genética en Las Tunas, nonestre de 2015

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: la inclusión de pacientes en los programas de prevención de enfermedades genéticas facilita la toma de conductas oportunas con la participación de la familia, contribuyendo a mantener indicadores adecuados de salud genética en la población ...
Orlando Peña Mancebo, Enelis Reyes Reyes, Nora María Orive Rodríguez, Lisset del Carmen Romero Portelles, Adriana Figuera Castillo   +4 more
doaj  

Haploidentical Hematopoietic Cell Transplantation for Infants With X‐Linked Severe Combined Immunodeficiency Using Post‐Transplant Cyclophosphamide

Pediatric Blood &Cancer, EarlyView.
Shuhei Takahashi, Akito Kawachi, Dan Tomomasa, Eri Watanabe, Yuji Fujita, Yuya Sato, Masahiro Sekiguchi, Kentaro Watanabe, Moe Hidaka, Akihiro Hoshino, Takahiro Kamiya, Masatoshi Takagi, Hirokazu Kanegane, Motohiro Kato   +13 more
wiley   +1 more source

Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo

Allergy, Asthma & Clinical Immunology, 2022
Background IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema.
Leonardo Oliveira Mendonça, Adriana Pitchon dos Reis Chuster, Mayra Barros Dorna, Samar Freschi Barros, Janaina Baptista Alves, Victor Lucas Gonçalves, Ariana Campos Yang, Jorge Kalil, Myrthes Anna Maragna Toledo-Barros, Cristina Maria Kokron   +9 more
doaj   +1 more source

Incidence, Risk Factors and Management of Adverse Events in Contemporary Real‐World Care of Children with Juvenile Idiopathic Arthritis

Arthritis Care &Research, Accepted Article.
Objective We describe the frequency, risk factors, severity, and management of actionable and serious adverse events (AAE and SAE) in children with newly diagnosed Juvenile Idiopathic Arthritis (JIA) in Canada. Methods We enrolled patients within 3 months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry,
Bashayer Alnuaimi, Roberta A. Berard, Jean‐Philippe Proulx‐Gauthier, Heinrike Schmeling, Michelle Batthish, Gilles Boire, Adam M. Huber, Dax G. Rumsey, Jaime Guzman, Gaëlle Chédeville, The CAPRI registry Investigators   +10 more
wiley   +1 more source

Inborn errors of immunity and somatic variant phenocopies disrupting human JAK-STAT signaling.

Journal of Allergy and Clinical Immunology
The Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling cascade is an evolutionarily conserved signal transduction pathway that regulates many vital cellular processes, including immune function and hematopoiesis.
Simran Samra, Jenna R. E. Bergerson, A. Freeman, S. Turvey   +3 more
semanticscholar   +1 more source