Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Maria Gieron-Korthals"'
Publikováno v:
Case Reports in Pediatrics, Vol 2013 (2013)
Externí odkaz:
https://doaj.org/article/6c191f0b20bb48f78885ba7865a53b1b
Publikováno v:
Advances in Pediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e85b90f498ceb41642b54bc715d12230
https://doi.org/10.1016/j.yapd.2023.03.007
https://doi.org/10.1016/j.yapd.2023.03.007
Publikováno v:
Advances in pediatrics. 67
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d03e59d963918261188ab8d86da83013
https://pubmed.ncbi.nlm.nih.gov/32591061
https://pubmed.ncbi.nlm.nih.gov/32591061
Publikováno v:
Pediatrics. 144:249-249
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f7400f65210e5429ad7b279dae44a7c
https://doi.org/10.1542/peds.144.2ma3.249
https://doi.org/10.1542/peds.144.2ma3.249
Autor:
Eloise Prijoles, Amarilis Sanchez-Valle, Patricia Newkirk, Maria Gieron-Korthals, John Odom, Dorothy I. Shulman
Publikováno v:
Journal of Medical Case Reports
Background Hyperinsulinism-hyperammonemia syndrome is the second most common cause of congenital hyperinsulinism and is easily treated with diazoxide; however, the symptoms in our patient were very difficult to control with typical medical therapy. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bda605ddbbabefdbfb6b2e5b389bea2
http://europepmc.org/articles/PMC4738771
http://europepmc.org/articles/PMC4738771
Publikováno v:
Fetal and Pediatric Pathology. 23:51-64
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03e5b0e77a2b98c083cae1dd976ce3bf
https://doi.org/10.1080/15227950490494892
https://doi.org/10.1080/15227950490494892
Autor:
John Barnes, Maria Gieron-Korthals, Enid Gilbert-Barness, Atilano Lacson, Raymond Fernandez, Herbert H. Pomerance
Publikováno v:
American Journal of Medical Genetics. 94:68-74
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3f6265b43e1860b5cedc9a1fd039807
https://doi.org/10.1002/1096-8628(20000904)94:1<68::aid-ajmg14>3.0.co
https://doi.org/10.1002/1096-8628(20000904)94:1<68::aid-ajmg14>3.0.co
Autor:
Akhil Maheshwari, Monisha D. Saste, Darlene A. Calhoun, Robert M. Nelson, Maria Gieron-Korthals, Boris G. Kousseff, Atilano Lacson, Lourdes Pereda
Publikováno v:
American Journal of Medical Genetics. :288-290
We describe an infant with multiple congenital anomalies including cleft palate and micrognathia, Mobius sequence, developmental delay, myopathy, hydronephrosis, and bilateral clubfeet. These features are consistent with Carey-Fineman-Ziter (CFZ) syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93317714b81ddff30c62fcf8a3aa50cb
https://doi.org/10.1002/ajmg.a.20688
https://doi.org/10.1002/ajmg.a.20688
Autor:
Tracy Chang, Maria Gieron-Korthals
Publikováno v:
Fetal and pediatric pathology. 30(2)
Spinal muscular atrophy (SMA) is the most common childhood neurodegenerative disease. We report an infant with SMA type 1 and discuss the recent developments in SMA genetics, pathophysiology, and possible treatment options. Because SMA type 1 remains
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35c6c8e803613bf8f7a1829bce6b884d
https://pubmed.ncbi.nlm.nih.gov/21391754
https://pubmed.ncbi.nlm.nih.gov/21391754
Autor:
Maria Gieron-Korthals, Megan Toufexis
Publikováno v:
Journal of child neurology. 25(4)
We report 2 young children who are examples of the consequences of premature testing for Huntington disease. Premature testing of a child or fetus carries complex medical and psychological issues to both the child and the family that need to be consi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff65fbebb0f763cea6b08900b7bd5437
https://pubmed.ncbi.nlm.nih.gov/19808987
https://pubmed.ncbi.nlm.nih.gov/19808987