Results 151 to 160 of about 36,711 (394)

Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. [PDF]

, 1974
N. J. Brandt, S Brandt, K. Rasmussen, F Schnoheyder   +3 more
openalex   +1 more source

Current Controversies in Prenatal Diagnosis—Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks, Rogelio Cruz Martinez, Tim Van Mieghem   +2 more
wiley   +1 more source

Combined immunodeficiency and inborn errors of purine metabolism [PDF]

, 1978
H.J. Meuwissen, Bernard Pollara
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

Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism. [PDF]

Cureus, 2020
Khan A, Zahid B, Khan S, Ahmad SA.
europepmc   +1 more source

Inborn Errors of Metabolism in Neurology (Wilson's Disease, Refsum's Disease and Lipidoses) [PDF]

, 1971
J. N. Cumings
openalex   +1 more source

Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life

Journal of Inherited Metabolic Disease, 2014
G. Gramer, Gisela Haege, Esther M. Glahn, G. Hoffmann, M. Lindner, P. Burgard   +5 more
semanticscholar   +1 more source

Predicting Residual 21‐Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21‐hydroxylase enzyme activity, crucial for cortisol synthesis.
Davide Bindellini, Robin Michelet, Yersultan Mirasbekov, Qizong Lao, Charles Sukin, Wilhelm Huisinga, Deborah P. Merke, Charlotte Kloft   +7 more
wiley   +1 more source

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

Human Molecular Genetics, 2017
Anita M. Quintana, Hung-Chun Yu, Alison Brebner, Mihaela Pupavac, E. Geiger, A. Watson, Victoria L. Castro, W. Cheung, Shu-Huang Chen, D. Watkins, T. Pastinen, F. Skovby, B. Appel, D. Rosenblatt, T. Shaikh   +14 more
semanticscholar   +1 more source

Systematic review and meta‐analysis of COVID‐19 association with human semen quality: Changes in semen parameters pre‐ and post‐COVID

UroPrecision, EarlyView.
Abstract Coronavirus disease (COVID‐19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), which may infect the cells through binding with the angiotensin‐converting enzyme 2 (ACE2) receptors that can also be found in the male reproductive organs.
Wempy Supit, Tommy Supit, Sherryn Sherryn   +2 more
wiley   +1 more source