Results 131 to 140 of about 324,212 (297)

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

Impacto da hipertensão arterial no remodelamento ventricular, em pacientes com estenose aórtica Impact of hypertension on ventricular remodeling in patients with aortic stenosis

Arquivos Brasileiros de Cardiologia, 2011
FUNDAMENTO: A hipertrofia ventricular esquerda (HVE) é comum em pacientes com hipertensão arterial sistêmica (HAS) e estenose aórtica (EAo) e, com certa frequência, encontramos associação entre estas patologias.
João Carlos Hueb, João T. R. Vicentini, Meliza Goi Roscani, Daniéliso Fusco, Ricaro Mattos, Silméia Garcia Zanatti, Katashi Okoshi, Beatriz B. Matsubara   +7 more
doaj  

Hypertrophy of the Pylorus in Adults [PDF]

Acta Radiologica, 1946
Erik de Fine Licht, Kjeld Andersen, Arne Gammelgaard   +2 more
openaire   +3 more sources

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

Cardiac Hypertrophy in Rats with Phenylhydrazine Anemia

, 1958
Tom D. Norman, ROBERT D. MCBROOM
openalex   +1 more source

Electrocardiogram and Vectorcardiogram in Right Ventricular Hypertrophy and Right Bundle-Branch Block [PDF]

, 1957
William R. Milnor, Charles Bertrand, Frederick Mugler   +2 more
openalex   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

CYTOCHEMICAL CHANGES DURING NORMAL GROWTH AND COMPENSATORY HYPERTROPHY OF THE RAT KIDNEY

, 1955
N. B. Kurnick
openalex   +1 more source

ELECTROCARDIOGRAPHIC EVIDENCE OF ABNORMAL VENTRICULAR PREPONDERANCE AND OF AURICULAR HYPERTROPHY [PDF]

, 1918
Paul D. White, Arlie V. Bock
openalex   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source