Results 261 to 270 of about 519,978 (362)

Factors influencing jaundice follow-up rates in a multi-ethnic Asian population: a cross-sectional study. [PDF]

BMJ Paediatr Open
Koh SWC, Teng ASW, Ho ERQ, Goh JC, Low SH, Bauchner H.   +5 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

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study. [PDF]

BMJ Open
Anastasi L, Chowdhury A, Ashenden A, Rozek T, Louise J, Lam K, Skinner S, Stallard K, Merlin T, Schubert C, Vogan A, Morris S, Cohen-Woods S, Smith N, Ranieri E, Saxon B, Scott HS, Bratkovic D, Barnett CP, Siu CW, King J, Kassahn KS.   +21 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

Experiences of Mothers Caring for Premature Newborns in the Neonatology Clinic

, 2023
Jolita Zeringytė
openalex   +1 more source

Endothelial progenitor cell numbers vary in newborns and adults; anti-gm-CSFα (CD116) antibody as a novel marker for EPC enumeration. [PDF]

Innate Immun
Simsek S, Karaca C, Koker N, Öztürk A, Koker MY.   +4 more
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

Availability and the quality of key newborn data within routine health facility data: findings of the IMPULSE observational study in the Central African Republic, Ethiopia, Tanzania, and Uganda

Rornald Muhumuza Kananura, Dalena Paolo, Lorenzo Giovanni Cora, Firehiwot Abathun, Ousman Mouhamadou, Jacqueline Minja, Mary Ayele, Francesca Tognon, Ilaria Mariani, Sara Geremia, Giovanni Putoto, Donat Shamba, Louise T. Day, Peter Lochoro, Richard Mugahe, Chris Ebong, Marzia Lazzerini, Peter Waiswa   +17 more
openalex   +1 more source

Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487). [PDF]

PLoS One
Ren B, Wu Y, Gan W, Zhang Q, Yang D, Cao W, Zhang X, Jiang Y, Zhang Y, Guo B, Tie Y, Liu J, Cai G, Wang Y, Ma Y.   +14 more
europepmc   +1 more source

Frequency and short-term persistence of haematuria and/or proteinuria in neonates: a cohort study. [PDF]

Eur J Pediatr
Kittel J, Seilbeck C, Brandstetter S, Kabesch M, Melter M, Köninger A, Apfelbacher C, Ambrosch A, Geis T.   +8 more
europepmc   +1 more source