Results 191 to 200 of about 359,410 (318)

Distinct patterns and interactions of microbiota and short-chain fatty acids in breast milk and infant gut from rural and urban dyads. [PDF]

Front Microbiol
Khakisahneh S, Lee E, Hui A, Zhao R, Huang F, Zhang XY, Shen GX.   +6 more
europepmc   +1 more source

Gastroenteritis in infancy

BMJ, 1984
David Isaacs, Jane E Roberts, J A Walker-Smith   +2 more
openaire   +3 more sources

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

The development of visual attention in early infancy: Insights from a free‐viewing paradigm

, 2022
Stefan Treue, Tanzer, NK, Laura Langmann, Florian B. Pokorny, Christof Körner, Krieber-Tomantschger, I, Marschik, PB, Peter B. Marschik, Treue, S, Krieber-Tomantschger, M, Magdalena Krieber‐Tomantschger, Iris Krieber‐Tomantschger, Dajie Zhang, Pokorny, FB, Langmann, L, Zhang, D, Poustka, L, Luise Poustka, Christa Einspieler, Einspieler, C, Norbert K. Tanzer   +20 more
core   +1 more source

Congenital heart disease in England: a national cohort study from fetal diagnosis to end of infancy. [PDF]

Heart
Huang Q, Franklin RCG, Seale AN, Jowett V, Pagel C, Crowe S, Brown KL.   +6 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

Infection in infancy [PDF]

Archives of Disease in Childhood, 1945
openaire   +3 more sources

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

Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. [PDF]

Clin Case Rep
Pandit A, Koirala M, Shahi A, Sharma A, Panta A, Rimal S.   +5 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