Results 131 to 140 of about 869,874 (249)

Niemann–Pick disease in a child with congenital cytomegalovirus infection

, 2020
V. Elena, L.A. Fedorova, Maria Yu. Sajkova, Olga G. Reutskaia   +3 more
openalex   +1 more source

P01.02: Evaluation of congenital cardiac findings in the group of high‐risk pregnancies [PDF]

, 2004
Juan Troyano, M. T. Clavijo, V. Ferianec, Michal Holan, P Suska, K Holomáň, O. Y. Marco, Claudio F. Feo, I. Martínez‐Wallin   +8 more
openalex   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Laparoscopic Partial Splenectomy for a Giant Congenital Splenic Cyst in a Child: Case Report and Focused Literature Review. [PDF]

Clin Case Rep
Alanzi A, Alatefi D, Alkabazi M, Alsaleh B, AlAani KM, Hakmi S.   +5 more
europepmc   +1 more source

High prevalence of truncus arteriosus in pediatric congenital heart disease in Uganda

, 2019
Judith Namuyonga, Sulaiman Lubega, Twalib Aliku, John Omagino, Craig Sable, Peter Lwabi   +5 more
openalex   +1 more source

Inaccuracy of Doppler echocardiography diagnoses mild congenital heart disease related pulmonary hypertension [PDF]

, 2011
Ya Shen, Fuqiang Wen
openalex   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Lacunar stroke with incidental congenital absence of the internal carotid artery: importance of recognising a rare anatomical variant. [PDF]

BMJ Case Rep
Lai WL, Ratnayake D.
europepmc   +1 more source

Congenital Digestive System Disorder [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source