Results 251 to 260 of about 893,776 (343)

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

The impact of epiretinal membrane stage and postoperative treatment on visual and anatomical outcomes following vitrectomy in eyes with preexisting macular edema. [PDF]

Int J Retina Vitreous
Vounotrypidis E, Meyer J, Vogt D, Wertheimer C, Herold T, Priglinger S, Wolf A.   +6 more
europepmc   +1 more source

ARTERIOGRAPHY IN CIRCUMFERENTIAL COMPRESSION EDEMA

, 1966
J. L. Curry, Willard J. Howland
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

Deep learning for automated segmentation of radiation-induced changes in cerebral arteriovenous malformations following radiosurgery. [PDF]

BMC Med Imaging
Ho HH, Yang HC, Yang WX, Lee CC, Wu HM, Lai IC, Chen CJ, Peng SJ.   +7 more
europepmc   +1 more source

PULMONARY EDEMA INDUCED BY ADRENALINE AND RELATED AMINES IN RATS, AND ITS MODIFICATION BY VARIOUS PRETREATMENTS

, 1967
Tatsuro Shigei, Akira Sakuma, TSUNE ENOMOTO, Sachiko Oh‐ishi, Ryoji Hatano   +4 more
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Isolated Feet Edema in Turner Syndrome by Prenatal Ultrasonography - Case Report and Literature Review. [PDF]

Int J Womens Health
Ma J, Liang L, Liu S, Yan K, Zhang L.
europepmc   +1 more source