Results 181 to 190 of about 26,055 (351)

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

The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Neininger MP, Eisenhofer S, Thiele AG, Kiess W, Bertsche A, Bertsche T, Beblo S.   +7 more
europepmc   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

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

Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. [PDF]

Sudan J Paediatr, 2019
Reddy JM, Jose J, Prakash A, Devi S.
europepmc   +1 more source

Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy [PDF]

, 1984
Berlit, Peter, Bonjour, Jean-Pierre, Kochen, W., Krause, Klaus-Henning   +3 more
core  

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

Genetic diversity and population structure of pedunculate oaks (Quercus robur) in Wytham Woods

PLANTS, PEOPLE, PLANET, EarlyView.
Genetic diversity underpins forest resilience and adaptation, yet centuries of human activity have reshaped woodland ecosystems worldwide. We studied the population genetics of pedunculate oaks (Quercus robur) in Wytham Woods, UK, across stands with different ages and management histories.
Tin Hang Hung, Elias Formaggia, Lucy Morley, Keith Kirby, Roberto Salguero‐Gómez, Ben C. Sheldon, John J. MacKay   +6 more
wiley   +1 more source

Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolism. [PDF]

Sultan Qaboos Univ Med J, 2015
Vasikarla M, Pandita A, Sharma D, Pratap OT, Murki S.   +4 more
europepmc   +1 more source