Results 151 to 160 of about 398,508 (313)

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Perioperative fluid management in kidney transplantation: What's new and future directives? [PDF]

World J Nephrol
Goyal VK, Shekhrajka P, Bhargava SK, Mittal S.   +3 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Chemical Metabolomics: Chemical Biology Tools for Advanced Metabolism Investigations

Angewandte Chemie, EarlyView.
The human metabolism has been investigated for several millennia. The metabolome is known for a high complexity due to a large number of different metabolites that are present at different concentrations. Metabolomics has been developed as a field to investigate the entire human metabolome and to elucidate disease development mechanisms.
Alejandro Torregrosa‐Chinillach, Ioanna Tsiara, Wawrzyniec Haberek, Weifeng Lin, Daniel Globisch   +4 more
wiley   +2 more sources

Proteinuria After Kidney Transplantation. [PDF]

Pediatr Transplant
Seeman T, Myette RL, Feber J, Bertacchi M, Dandamudi RS, Erez DL, Buescher A.   +6 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Successful Kidney Transplantation in Turner Syndrome: A Case for Feasibility and Favorable Outcomes. [PDF]

Clin Case Rep
Sholan R, Aliyev R, Bakhshaliyeva N, Ismayilov R, Almazkhanli A, Sultan M.   +5 more
europepmc   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Stereoselective Biotransformation: Transfer of Learning to Advance Drug Metabolism and Biocatalysis

Angewandte Chemie, EarlyView.
Understanding stereoselective biotransformations has implications for predicting drug disposition and response and may also inspire novel biocatalytic and biomimetic strategies to address challenges in metabolite and API synthesis. ABSTRACT Chirality is an important determinant of drug action, as enantiomers can exhibit markedly different ...
Grace A. Okunlola, Godwin A. Aleku
wiley   +2 more sources

Management of Surgical Complications in Pediatric Kidney Transplantation. [PDF]

J Clin Med
Corzo MP, Rasmussen SK, Nathan JD.
europepmc   +1 more source