Results 231 to 240 of about 775,921 (319)

2025 Korean Guidelines for Cardiopulmonary Resuscitation: Part 9. Neonatal resuscitation. [PDF]

Clin Exp Emerg Med
Heo JS, Jung YH, Kim AE, Shim G, Cho SJ, Lee JH, Seol HJ, Lee GS, Oh AY, Myung HJ, Chung SP, Kim DK, Kim TY, Sohn Y, Oh Y, Youn CS, Lee MJ, Lee J, Lee CH, Jang Y, Jang YS, Cho GC, Cha KC, Hwang SO.   +23 more
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Infant-mother attachment security and cortisol reactivity during the strange situation procedure: Longitudinal associations with maternal depressive symptoms and infant temperament. [PDF]

Neurobiol Stress
Bader LR, Volling BL, Safyer P, Tengelitsch E, Huth-Bocks A, Hiltz C, Gonzalez R, Tan L, Lopez JF, Vazquez DM.   +9 more
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Developing Context-Appropriate Emotions: Longitudinal Changes in Emotion Reactivity and Emotion Regulation From 6 to 12 Months. [PDF]

Dev Sci
Suata ZM, Daubney K, Kostyrka-Allchorne K, Wass SV, Sonuga-Barke E.   +4 more
europepmc   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Evaluation of Pain in Infants of the First 100 Days of Age With Artificial Intelligence Techniques. [PDF]

J Eval Clin Pract
Acikgoz A, Yigit D, Celik O.
europepmc   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Developmental function of very-low-birth-weight infants and full-term infants in early childhood. [PDF]

, 2009
Chen PS;Jeng SF;Tsou KI for Taipei Long-Term Developmental Follow-Up Group for Preterm Infants, Chen PS; 鄭素芳;Tsou KI for Taipei Long-Term Developmental Follow-Up Group for Preterm Infants   +1 more
core  

Short-Term Gastrointestinal Tolerance and Oxygenation Changes After a Locust Bean Gum-Containing Formula in Preterm Infants: A Retrospective Paired Cohort Study. [PDF]

Nutrients
Konak M, Kılıçlı E, Uygun SS, Namal H.   +3 more
europepmc   +1 more source