Results 171 to 180 of about 39,677 (355)

Parent-Reported Caregiving Roles of Siblings of Children with Inborn Errors of Metabolism. [PDF]

J Dev Behav Pediatr, 2023
Granovetter MA, Sumrall S, Lea D, Gelles S, Koehly LM.   +4 more
europepmc   +1 more source

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry [PDF]

, 1995
Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall, Douglas Little   +3 more
openalex   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Bertsche T, Thiele AG, Kiess W, Bertsche A, Beblo S, Neininger MP.   +6 more
europepmc   +1 more source

A 15‐year population‐based study on incidence and vaccination coverage in pediatric inflammatory bowel disease in Italy

Pediatric Investigation, EarlyView.
Increasing incidence of pediatric inflammatory bowel disease (IBD) and suboptimal vaccination coverage in Apulia, Italy (2009–2023). A total of 1044 incident cases of paediatric IBD were identified in the period 2009–2023 in Apulia, Italy, giving an average annual standardized incidence rate of 12.7/100 000. A significant increase in incidence occurred
Francesca Fortunato, Angelo Campanozzi, Michele Di Toma, Alessandra Marinari, Domenico Martinelli   +4 more
wiley   +1 more source

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +1 more source

Inborn Errors of Metabolism: Garrod’s Legacy [PDF]

, 1996
Alexander G. Bearn
openalex   +1 more source

Identifying Pediatric Drug Safety Knowledge Gaps: An Integrated Approach Leveraging Real‐World Data, a Biomedical Knowledge Base, and Postmarketing Surveillance Data

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, EarlyView.
ABSTRACT Background Drug safety has historically been understudied in pediatric populations, rendering them “therapeutic orphans.” Pediatric drug indications and dosages are often inferred by extrapolating safety, efficacy, and dosing data from adult studies, leading to widespread off‐label use.
Saurabh Rahurkar, Jiayi Ouyang, Pallavi Jonnalagadda, Xiaofu Liu, Shijun Zhang, Chien‐Wei Chiang, Lei Wang, Aditi Shendre, Lang Li   +8 more
wiley   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism [PDF]

, 2000
Johannes Zschocke, Jos P.N. Ruiter, Jochen Brand, Martin Lindner, Georg F. Hoffmann, Ronald J. A. Wanders, Ertan Mayatepek   +6 more
openalex   +1 more source