Results 261 to 270 of about 106,770 (379)

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

Major ion chemistry and suitability of groundwater resources for different utilizations in mica mining areas, Jharkhand, India. [PDF]

Geochem Trans
Giri S, Tiwari AK, Mahato MK, Singh AK.
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

Basic Sites on Alumina with Preadsorbed Ethanol and Ammonia-An IR Study. [PDF]

Molecules
Podobiński J, Datka J.
europepmc   +1 more source

Lack of Effect of Sodium Bicarbonate on Shell Characteristics

, 1968
Allan C. Cox, S.L. Balloun
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

The Rationale for Combining Normothermic Liver Machine Perfusion with Continuous Renal Replacement Therapy to Maintain Physiological Perfusate during Ex Vivo Organ Perfusion. [PDF]

J Clin Med
Nalesso F, Bertacco A, Bettin E, Cacciapuoti M, Bogo M, Cattarin L, Lanari J, Furlanetto A, Lanubile A, Gringeri E, Calò LA, Cillo U.   +11 more
europepmc   +1 more source

The relation between the concentrations of bicarbonate and protein in the pancreatic juice in the dog

, 1966
F. W. Henriksen, H. Worning
openalex   +1 more source

An optimized perfusate for enhanced rat ex vivo lung perfusion and lung transplant models

Animal Models and Experimental Medicine, EarlyView.
We explored a low‐cost and efficient perfusate composition for use in rat ex vivo lung perfusion (EVLP) and lung transplant models. This perfusate demonstrates better biocompatibility, likely due to a reduction in immune responses associated with high doses of xenogenic proteins, resulting in less lung injury posttransplantation.
Jie Zhang, Xuanlin Zhang, Jianxing He
wiley   +1 more source

Enzyme-accelerated CO₂ capture and storage (CCS) using paper and pulp residues as co-sequestrating agents. [PDF]

RSC Adv
De Oliveira Maciel A, Christakopoulos P, Rova U, Antonopoulou I.   +3 more
europepmc   +1 more source