Results 121 to 130 of about 39,677 (355)

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Historical aspects of inborn errors of metabolism [PDF]

, 1962
H. M. Sinclair
openalex   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

Scientific Reports, 2019
Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases.
Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff   +6 more
doaj   +1 more source

Inborn Errors of Metabolism. Part 2: Laboratory Methods [PDF]

, 1966

openalex   +1 more source

Maternal diabetes mellitus during pregnancy as a risk factor for strabismus and refractive errors in the offspring—A large‐scale national study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To investigate whether maternal diabetes during pregnancy is associated with increased risk of strabismus and refractive errors (RE) in their offspring. Methods This retrospective cohort study utilized electronic medical records from Clalit Health Services (CHS) in Israel, 2001–2023. Births were categorized by maternal diabetes type (
Nir Amitai, Tomer Kerman, Tamar Eshkoli, Ahed Imtirat, Amichai Raz, Itamar Ben Shitrit, Dor Marciano, Eyal Sheiner, Erez Tsumi   +8 more
wiley   +1 more source

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

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

Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia [PDF]

, 2019
Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary ...
Bream, Alexa
core   +1 more source

Correlation between umbilical cord concentration of the growth hormone‐IGF axis and small for gestational age: A single‐center retrospective, observational study

International Journal of Gynecology &Obstetrics, EarlyView.
Synopsis Imbalance in the GH‐IGF‐1 axis may restrict fetal growth and development, thereby increasing the risk of future metabolic diseases. Abstract Objective To ascertain the association between small for gestational age (SGA) and growth hormone (GH)‐insulin‐like growth factor (IGF) system status.
Jing Wen, Yan Zhao, Ruoling Xian, Xin Fan   +3 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