Results 131 to 140 of about 38,522 (353)

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

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +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

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

, 1971
J. N. Cumings
openalex   +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

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

Neural mechanisms and clinical features of anti‐influenza drug‐related psychiatric adverse events

VIEW, EarlyView.
Anti–influenza drugs, while essential, have been increasingly associated with psychiatric adverse events (pAEs). Our study systematically investigated these pAEs by utilizing large pharmacovigilance databases and animal models, thereby revealing key clinical features and underlying neural mechanisms.
Anqi Lin, Tong Jiang, Chaofan Fan, Yihan Gao, Dan Shan, Qingxi Zhang, Kun Huang, Peng Luo, Shuofeng Yuan, Xin Chen   +9 more
wiley   +1 more source

Book Review: Phenylketonuria and Some other Inborn Errors of Amino Acid Metabolism [PDF]

, 1972
D. N. Raine
openalex   +1 more source