Results 261 to 270 of about 6,042,146 (340)

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

Exploring Neurobiological and Pharmacological Dimensions of Psychological Distress in Pre-Eclampsia: Implications for Maternal and Neonatal Outcomes. [PDF]

Health Sci Rep
Matovu D.
europepmc   +1 more source

Neonatal seizures in the U.S. National Inpatient Population: Prevalence and outcomes [PDF]

, 2019
Swetha Padiyar, Leen Nusairat, Amer N. Kadri, Jalal M. Abu‐Shaweesh, Hany Aly   +4 more
openalex   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Maternal and neonatal outcomes according to the timing of diagnosis of gestational diabetes: A critical appraisal. [PDF]

World J Diabetes
Punnose J.
europepmc   +1 more source

The Influence of Web-Based Tools on Maternal and Neonatal Outcomes in Pregnant Adolescents or Adolescent Mothers: Mixed Methods Systematic Review (Preprint)

, 2020
Jania J.Y. Wu, Nurulhuda Ahmad, Miny Samuel, Susan Logan, Citra Nurfarah Zaini Mattar   +4 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Maternal and neonatal outcomes in singleton pregnancies conceived using donor oocytes: a retrospective cohort study. [PDF]

Matern Health Neonatol Perinatol
Frankel RA, Peyser A, Gulersen M, Ferraro A, Li X, Krantz D, Rochelson B, Bornstein E, Goldman R, Mullin C.   +9 more
europepmc   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Apgar score of zero at five minutes and neonatal seizures or serious neurologic dysfunction in relation to birth setting. [PDF]

, 2013
Brent, Robert L, Dr.
core   +1 more source