Results 81 to 90 of about 9,272 (239)

Mutational spectrum of cystinosis in Portugal, 1998-2017 [PDF]

, 2019
Artigo original publicado em inglês: Ferreira F, Leal I, Sousa D, et al. CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population. Open J Genet. 2018 Dec 18;8(4):91-100.
Carmona, Célia, Costa, Teresa, Ferreira, Filipa, Gomes, Ana Marta, Leal, Inês, Lopes, Daniela, Macário, Maria do Carmo, Magriço, Rita, Marcão, Ana, Mota, Conceição, Neiva, Raquel,, Oliveira, João Paulo, Pinto, Helena, Ramos, Sónia, Sousa, David, Tavares, Isabel, Vilarinho, Laura   +16 more
core  

FK506 IN PEDIATRIC KIDNEY-TRANSPLANTATION - PRIMARY AND RESCUE EXPERIENCE [PDF]

, 1995
Between December 14, 1989, and December 17, 1993,43 patients undergoing kidney transplantation alone at the Children’s Hospital of Pittsburgh received FK506 as the primary immunosuppressive agent. The mean recipient age was 10.2 ± 4.8 years (range 0.7–17.
ELLIS, D, GILBOA, N, HAKALA, TR, HOPP, L, IRISH, W, JORDAN, ML, MCCAULEY, J, MITCHELL, S, SCANTLEBURY, VP, SHAPIRO, R, SIMMONS, RL, STARZL, TE, TZAKIS, AG, VIVAS, C   +13 more
core   +1 more source

In Vitro and In Vivo Models to Study Nephropathic Cystinosis

Cells, 2021
The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the
Pang Yuk Cheung, Patrick T. Harrison, Alan J. Davidson, Jennifer A. Hollywood   +3 more
doaj   +1 more source

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis

Orphanet Journal of Rare Diseases, 2021
Background Nephropathic cystinosis is a rare and severe metabolic disease leading to an accumulation of cystine in lysosomes which especially harms kidney function.
C. van Stein, Sabrina Klank, M. Grüneberg, C. Ottolenghi, J. Grebe, J. Reunert, E. Harms, T. Marquardt   +7 more
semanticscholar   +1 more source

Tension between the need for certainty and numerous uncertainties—A focus group study on various perspectives on a potential genomic newborn screening program in Germany

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract The advancement of genome sequencing technology and its potential application in newborn screening is being discussed in various countries. Genomic newborn screening (gNBS) can provide parents with information about their child's genetic susceptibility for known disorders. However, it also presents ethical and psychosocial challenges.
Elena Sophia Doll, Julia Mahal, Karla Alex, Seraina Petra Lerch, Stefan Kölker, Christian P. Schaaf, Eva C. Winkler, Beate Ditzen   +7 more
wiley   +1 more source

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Golden, Stephanie, Han, Julia, Kimonis, Virginia, Peters, Sarika U, Waisbren, Susan   +8 more
core  

Variations in Arterial Blood Pressure after Kidney Transplantation [PDF]

, 1973
The course of hypertension within the first 2 months after kidney transplantation was correlated with renal function, plasma renin activity (PRA), and the daily maintenance dose of prednisone in 18 homograft recipients.
CORMAN, JACQUES L, HALGRIMSON, CHARLES G, KATZ, FRED H, LANOIS, BERNARD, PINNGGERA, WULF, POPOVTZER, MORDECAI M, ROBINETTE, JOHN, STARZL, THOMAS E   +7 more
core   +1 more source

A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia

Cells, 2021
Mice lacking the functional cystinosin gene (Ctns−/−), a model of infantile nephropathic cystinosis (INC), exhibit the cachexia phenotype with adipose tissue browning and muscle wasting.
Alex Gonzalez, W. Cheung, Elliot A. Perens, E. A. Oliveira, A. Gertler, R. Mak   +5 more
semanticscholar   +1 more source

Evaluating Quality of Care Indicators for Metastasis Development in Cutaneous Squamous Cell Carcinoma Among Mexican Renal Transplant Recipients

JEADV Clinical Practice, Volume 4, Issue 2, Page 499-502, June 2025.
ABSTRACT Background Cutaneous squamous cell carcinoma (cSCC) poses a high metastatic risk in immunosuppressed individuals, especially organ transplant recipients (OTRs). Despite international guidelines recognizing these risks, no universal standard exists for assessing quality of care (QoC) in cSCC.
Andrea Malagon‐Liceaga, Jesus Alejandro Romero‐Aguila, Bonfilio Roberto Lazcano‐Prieto, Fanny Carolina Lopez‐Jimenez, Rebeca Palafox‐Romo, Samantha Paola Bermudez Rodriguez, Verónica Monserrat Díaz Sanchez, Judith Dominguez‐Cherit, Silvia Mendez‐Flores, Ana Lilia Ruelas‐Villavicencio   +9 more
wiley   +1 more source

Nephropathic Cystinosis : First reported case in Oman

Sultan Qaboos University Medical Journal, 2011
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani, Mohammed El-Naggari, Rana Al-Sinawi, Alexander P. Chacko, Anuradha Ganesh, Ibtisam El Nour   +5 more
doaj