Results 71 to 80 of about 101,655 (304)

Lipids and renal cystic disease [PDF]

Nephrology Dialysis Transplantation, 2010
Summary of key findings Glucosylceramide (GlcCer) levels were found to be higherin kidney tissue of autosomal dominant PKD/conditionalknockout mice and nephronophthisis mice (jck and pcymice) than in normal kidney tissue. The same was foundin renal tissue of human polycystic kidney disease (PKD)as compared with normal kidney tissue.
Robert W, Schrier, Moshe, Levi
openaire   +2 more sources

Consumed by Abdominal Distention

Arthritis Care &Research, EarlyView.
Abimbola Fadairo‐Azinge, James Grenert, Brian Haas, Mary Margaretten   +3 more
wiley   +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

Transplantation in children [PDF]

, 1976
Kidney transplantation in very young children, less than 2 years of age, has usually failed, mainly because of difficulties maintaining these patients on hemodialysis long enough to permit retransplantation after loss of the original graft.
Charles W. Putnam, DeShazo, Kendrick A. Porter, Lilly, Lilly, Richard Weil, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl   +15 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Evaluation of renal perfusion in hyperthyroid cats before and after radioiodine treatment [PDF]

, 2017
Background: Hyperthyroidism and chronic kidney disease (CKD) are common in elderly cats. Consequently, both diseases often occur concurrently. Furthermore, renal function is affected by thyroid status. Because changes in renal perfusion play an important
Adams, Adams, Becker, Boag, Brown, Daniel, Debruyn, Dong, Dong, Fischer, Gauthier, Graves, Grenier, Haers, Herget-Rosenthal, Hoek, Hoek, Hyvelin, Kay, Ma, Milner, Ohlerth, Paepe, Paepe, Peterson, Riensche, Slater, Stock, Stock, Stock, Tang, Tsuruoka, Vaske, Volckaert, Williams   +34 more
core   +2 more sources

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Signifance of Liver Ductal Plate Malformation in Differential Diagnosis of Autosomal Recessive Polycystic Kidney Disease: An Autopsy Case

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Cystic renal diseases are a group of disorders that cause neonatal deaths. Autosomal recessive polycystic kidney disease (ARPKD) is a rare entity which may be associated with liver disorders.
Kivilcim Eren Erdogan, Sevil Karabag, seyda Erdogan, Figen Doran   +3 more
doaj  

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source