Results 361 to 370 of about 799,457 (416)

A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

American Journal of Medical Genetics Part A, EarlyView.
Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J. Eaton, Kristin D. Kernohan, Care4Rare Canada Consortium, Margarita Larralde, Kym M. Boycott   +8 more
wiley   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Neonatal Outcomes of Mothers with Syphilis During Pregnancy: A Retrospective Single Center Experience. [PDF]

Children (Basel)
Buonsenso D, Raffaelli F, Camporesi A, Fiori B, Ricci R, Romano L, De Santis M, Vento G, Torti C, Tamburrini E, Valentini P.   +10 more
europepmc   +1 more source

Clinical overview and characteristics of neonates from mothers confirmed with COVID-19 at Sulianti Saroso Infectious Disease Hospital. [PDF]

J Family Med Prim Care
Tobing AN, Maemun S, Widiantari AD, Wijiarti K, Marlina R, Mariana N.   +5 more
europepmc   +1 more source

Universal Clinical DDH Screening Complemented with Targeted Ultrasound Is Effective in Finland. [PDF]

J Bone Joint Surg Am
Luoto ES, Jalkanen J, Kuitunen I, Sund R, Nietosvaara Y.   +4 more
europepmc   +1 more source

Editorial note: Randomized controlled trial of early, small-volume formula supplementation among newborns: a study protocol. [PDF]

PLoS One
PLOS One Editors.
europepmc   +1 more source

Understanding neonatal unit interventions and breastfeeding outcomes in two hospitals in Ghana to facilitate optimization of newborn care. [PDF]

BMC Pediatr
Onwona-Agyeman K, Abdul-Mumin A, Srinivas GL, Atitsogbui E, Abrokwah JB, Kyei-Manu AG, Kanamu MH, Kpiniong MJ, Narayanan I.   +8 more
europepmc   +1 more source

Hypocalcemia in the Newborn [PDF]

The Indian Journal of Pediatrics, 2001
Healthy term babies undergo a physiological nadir in serum calcium levels by 24-48 hours of age. This nadir may be related to the delayed response of parathyroid and calcitonin hormones in a newborn. This nadir may drop to hypocalcemic levels in high-risk neonates including infants of diabetic mothers, preterm infants and infants with perinatal ...
Ashish, Jain, Ramesh, Agarwal, M Jeeva, Sankar, Ashok, Deorari, Vinod K, Paul   +4 more
openaire   +3 more sources

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Hypoglycemia in the newborn

The Indian Journal of Pediatrics, 2008
Hypoglycemia in a neonate has been defined as blood sugar value below 40mg/dL. Hypoglycemia is encountered in a variety of neonatal conditions including prematurity, growth retardation and maternal diabetes. Screening for hypoglycemia in certain high-risk situations is recommended.
Ashok K. Deorari, Rajiv Aggarwal, Rajiv Aggarwal, Vinod K. Paul, Ramesh Agarwal, M. Jeeva Sankar, Ashish Jain   +6 more
openaire   +4 more sources