Results 151 to 160 of about 2,729,552 (357)

Sex‐specific white matter alterations in children exposed to high pregestational BMI

Obesity, EarlyView.
Abstract Objective This study investigated whether exposure to high pregestational BMI (≥ 25 kg/m2) is associated with alterations in white matter microstructure in early childhood, explored sex‐specific effects, and examined associations with cognitive performance. Methods A total of 90 children from the Alberta Pregnancy Outcomes and Nutrition (APrON)
Samson Nivins, Jess Reynolds, Gerald F. Giesbrecht, Deborah Dewey, Nicole Letourneau, Catherine Lebel   +5 more
wiley   +1 more source

Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes

Neurobiology of Disease, 2010
AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant, Elidie Béard, Céline Torrent, Hugues Henry   +3 more
doaj  

Historical aspects of inborn errors of metabolism [PDF]

, 1962
H. M. Sinclair
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

Inborn Errors of Metabolism [PDF]

Biochemical Society Transactions, 1981
openaire   +5 more sources

Book Review: Brain Damage by Inborn Errors of Metabolism [PDF]

, 1969
E. F. Scowen
openalex   +1 more source

Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings

Pediatric Discovery, EarlyView.
Abstract Spina bifida is a birth defect resulting from abnormal embryonic development of the neural tube. Though spina bifida is divided into several subtypes, myelomeningocele—the most severe form of spina bifida often associated with a markedly diminished quality of life—accounts for a significant portion of cases.
Ethan S. Wong, Daniel A. Hu, Lily Zhang, Rachel Qi, Cindy Xu, Ou Mei, Guowei Shen, Wulin You, Changqi Luo, Tong‐Chuan He, Russell R. Reid, Lewis S. Shi, Michael J. Lee, Yi Zhu   +13 more
wiley   +1 more source

Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies [PDF]

, 1975
Hildegard Przyrembel, Dorothea Bachmann, I. Lombeck, Kathrin Becker, U. Wendel, S.K. Wadman, H. J. Bremer   +6 more
openalex   +1 more source

Toward Precision Dosing of Lamotrigine During Pregnancy: Physiologically Based Pharmacokinetic Modeling and Simulation

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Lamotrigine is a commonly used anti‐seizure medication in pregnant women. However, its pharmacokinetics (PK) during pregnancy markedly change, increasing the frequency of seizures and endangering the safety of the mother and fetus. Meanwhile, insufficient PK data on lamotrigine during pregnancy hinders its dose adjustment.
Yudie Qian, Wanhong Wu, Chengjie Ke, Siting Liu, Jiarui Chen, Yuying Chen, Xianzhong Guo, Weiwei Lin   +7 more
wiley   +1 more source

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