Results 311 to 320 of about 1,922,511 (410)

Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics. [PDF]

Ital J Pediatr
Hu H, Ma Q, Wang Y, Song W, Xu H.
europepmc   +1 more source

The storage and use of newborn babies' blood spot cards: a pubic consultation [PDF]

, 2005
Dezateux, Carol, Hargreaves, Katrina, Oliver, Sandy, Stewart, Ruth   +3 more
core   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

India: The Last and Best Frontier for Cystic Fibrosis Newborn Screening with Perspectives on Special Challenges. [PDF]

Int J Neonatal Screen
Farrell PM, Paul GR, Varkki SD.
europepmc   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Newborn screening initiatives for sickle cell disease in Africa. [PDF]

Hematology Am Soc Hematol Educ Program
Nnodu OE, Okeke CO, Isa HA.
europepmc   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs. [PDF]

Metabolites
Tommolini ML, Cufaro MC, Valentinuzzi S, Cicalini I, Zucchelli M, Frisco A, Simonetti S, Perrone Donnorso M, Moccia S, Bucci I, Aricò M, De Laurenzi V, Federici L, Pieragostino D, Rossi C.   +14 more
europepmc   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source