Results 221 to 230 of about 242,800 (316)

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

Prognosis of neonates receiving invasive mechanical ventilation in low-resource settings: a systematic review and prognostic meta-analysis. [PDF]

Eur J Pediatr
Krishnegowda VK, Ramaswamy VV, Bandiya P, Bandyopadhyay T, Abiramalatha T, Pullattayil AK, Trevisanuto D.   +6 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

Working Party on Organ Transplantation in Neonates [PDF]

, 1988

core  

Differential cytokine signature profiles in neonates, infants, and children with enterovirus meningitis. [PDF]

J Virol
Chabrolles H, Gaume L, Pereira B, Lafolie J, Gueirard P, L'Honneur AS, Adam MN, Nathanson S, Marque-Juillet S, Madhi F, Verdan M, Guitteny MA, Lagathu G, Bailly J-L, Henquell C, Archimbaud C, Blood Enterovirus Diagnosis Infection (BLEDI) Group in the Pediatric Population Study Team.   +16 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

Time to Death and Predictors of Mortality in Neonates Admitted to Tibebe Ghion Referral Hospital, Neonatal Intensive Care Unit in Northwest Ethiopia: A Retrospective Follow-Up Study. [PDF]

Health Sci Rep
Tsegaye GW, Addis MB, Muchie KF.
europepmc   +1 more source

Maternal and Child Health

Apollo Medicine, 2012
Anjali Kulkarni, Harsh Sharma
doaj   +1 more source

Maternal-neonatal vitamin D gradient at birth in Ilorin, Nigeria: a comparative cross-sectional study. [PDF]

Matern Health Neonatol Perinatol
Ayodeji O, Ayodele O, Omotayo A, Ariyibi S, Sikiru B, Popoola G, Ayobola A, Osonuga A, Adebayo UO, Oso TA, Ayelaagbe OB, Agboola AA, Lucero-Prisno Iii DE.   +12 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source