Results 241 to 250 of about 258,128 (359)

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

Protocol for a Multicentric Cohort Study on Neonatal Screening and Early Interventions for Sickle Cell Disease Among High-Prevalence States of India. [PDF]

Diagnostics (Basel)
Surve S, Thakor M, Madkaikar M, Kaur H, Desai S, Shanmugam R, Mohanty SS, Pandey A, Salomi Kerketta A, Dave K, Gawit KG, Bharathi Ramasamy L, Warerkar O, Kedar P, Kulkarni R, Nair S, Rajamani N, Nadkarni A.   +17 more
europepmc   +1 more source

Improving Neonatal Screening for Congenital Adrenal Hyperplasia [PDF]

, 2004
Phyllis Speiser
openalex   +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

History of Neonatal Screening of Congenital Hypothyroidism in Portugal. [PDF]

Int J Neonatal Screen
Costeira MJ, Costa P, Roque S, Carvalho I, Vilarinho L, Palha JA.   +5 more
europepmc   +1 more source

Universal neonatal hearing screening moving from evidence to practice [PDF]

, 2004
C Kennedy
openalex   +1 more source

A Pilot Test of DNA-based Analysis Using Anonymized Newborn Screening Cards in Iowa [PDF]

, 1998
Anderson, Jeannette, Getchell, Jane, Lysaught, M. Therese, Milhollin, Lisa, Murray, Jeffrey C., Peirce, Ryan, Rhead, William, Susanin, Jan   +7 more
core   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Investigation of Neonatal Hearing Screening by Using Automated Auditory Brainstem Response.

, 2000
Noriko Morita, Norio Sarashina, Satoru Yamaguchi   +2 more
openalex   +2 more sources

Disclosing to parents newborn carrier status identified by routine blood spot screening [PDF]

, 2004
Dezateux, Carol, Kavanagh, Josephine, Lempert, Tami, Oliver, Sandy, Stewart, Ruth   +4 more
core   +1 more source