Results 141 to 150 of about 26,855 (306)

The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

, 2018
Karina Colonetti, Luiz Fernando Würdig Roesch, Ida Vanessa Döederlein Schwartz   +2 more
openalex   +1 more source

The landscape of CRISPR/Cas9 for inborn errors of metabolism [PDF]

, 2022
Andrés Felipe Leal, Nidhi Fnu, Eliana Benincore-Flórez, Angelica María Herreño-Pachón, Olga Yaneth Echeverri-Peña, Carlos Javier Alméciga-Díaz, Shunji Tomatsu   +6 more
openalex   +1 more source

Creatine deficiency syndromes and the importance of creatine synthesis in the brain [PDF]

, 2018
Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy.
Braissant, Olivier, Béard, Elidie, Henry, Hugues, Uldry, Joséphine   +3 more
core  

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships [PDF]

, 2023
Noa Rosenberg, Nina N. Stolwijk, Sibren van den Berg, Joris J. Heus, Vincent van der Wel, Teun van Gelder, Annet M. Bosch, Saco J. de Visser, Carla E. M. Hollak   +8 more
openalex   +1 more source

“It's just us”: Families' experiences with temporary tube feeding

Nutrition in Clinical Practice, EarlyView.
Abstract Background Children with temporary feeding tubes are discharged home with increasing frequency, yet little is known about how families adapt and manage in their home environment. Whereas the physical side effects of temporary feeding tubes are well documented, the psychosocial impact on families remains underresearched. Understanding families'
Claire Reilly, Jeanne Marshall, Jasmine Foley, Nikhil Thapar, Rebecca Packer   +4 more
wiley   +1 more source

Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers [PDF]

, 2018
While it was thought that most of cerebral creatine is of peripheral origin, AGAT and GAMT are well expressed in CNS where brain cells synthesize creatine.
Braissant, Olivier
core  

Psychiatric Safety of Tirzepatide in People With Obesity and No Known Major Psychopathology: A Post Hoc Analysis of SURMOUNT

Obesity, EarlyView.
ABSTRACT Objective This post hoc analysis assessed psychiatric changes with tirzepatide in adults with obesity, without known major psychopathology, from SURMOUNT‐1, SURMOUNT‐2, and SURMOUNT‐3. Methods In participants (N = 4056) treated with tirzepatide (5/10/15 mg or maximum tolerated dose 10/15 mg) versus placebo, depressive symptoms and suicidal ...
Thomas A. Wadden, Maria A. Oquendo, Robert F. Kushner, Dachuang Cao, Chrisanthi A. Karanikas, Afton Kechter, Madhumita A. Murphy   +6 more
wiley   +1 more source

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. [PDF]

Mol Genet Genomic Med, 2020
Weber Hoss GR, Sperb-Ludwig F, Schwartz IVD, Blom HJ.   +3 more
europepmc   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source