Results 41 to 50 of about 2,741,348 (370)

Indications for pediatric liver transplantation [PDF]

, 1987
Two hundred fifty pediatric (
Andreas G. Tzakis, Baburao Koneru, Carlos O. Esquivel, Esquivel, Esquivel, Gordon, Iwatsuki, Leonard Makowka, National Institutes of Health Consensus Development Conference Statement, Robert D. Gordon, Satoru Todo, Shaw, Shaw, Shunzaburo Iwatsuki, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl, Tzakis, Urbach, Wallis W. Marsh   +21 more
core   +1 more source

Absent B Cells, agammaglobulinemia, and Hypertrophic Cardiomyopathy in Folliculin-interacting Protein 1 Deficiency [PDF]

, 2020
Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia,
Baas, Frank, Badolato, Raffaele, Barroeta Seijas, Amairelys, Biondi, Andrea, Bonanomi, Sonia, Booth, Claire, Bugarin, Cristina, Cazzaniga, Gianni, Chinn, Ivan K, Coban-Akdemir, Zeynep H, Daxinger, Lucia, Fazio, Grazia, Gaipa, Giuseppe, Gasperini, Serena, Iascone, Maria, Jarur-Chamy, Valentina, Kroes, Wilma G M, Lupski, James R, Mauri, Mario, Moratto, Daniele, Noguera, Loreani P, Orellana, Julio C, Piazza, Rocco, Poli, Cecilia, Quadri, Manuel, Rivers, Elizabeth, Rodriguez, Fred H, Saettini, Francesco, Shams, Marissa, van der Maarel, Silvère, van Oostaijen-Ten Dam, Monique M, Vengoechea, Jaime, Vukic, Maja, Yuan, Bo   +33 more
core   +2 more sources

The large-scale organization of metabolic networks [PDF]

Nature, v407 651-654 (2000), 2000
In a cell or microorganism the processes that generate mass, energy, information transfer, and cell fate specification are seamlessly integrated through a complex network of various cellular constituents and reactions. However, despite the key role these networks play in sustaining various cellular functions, their large-scale structure is essentially ...
arxiv   +1 more source

In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions

Nature Communications, 2022
Hereditary tyrosinemia type 1 (HT1) is an inborn error of metabolism caused by a deficiency in fumarylacetoacetate hydrolase (FAH). Here, the authors show in an animal model that HT1 can be treated via in vivo portal vein administration of a lentiviral ...
Clara T. Nicolas, Caitlin J. VanLith, Raymond D. Hickey, Zeji Du, Lori G. Hillin, Rebekah M. Guthman, William J. Cao, Benjamin Haugo, Annika Lillegard, Diya Roy, Aditya Bhagwate, Daniel O’Brien, Jean-Pierre Kocher, Robert A. Kaiser, Stephen J. Russell, Joseph B. Lillegard   +15 more
doaj   +1 more source

Risk of Developing Insulin Resistance in Adult Subjects with Phenylketonuria: Machine Learning Model Reveals an Association with Phenylalanine Concentrations in Dried Blood Spots

Metabolites, 2023
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism where high phenylalanine (Phe) concentrations cause irreversible intellectual disability that can be prevented by newborn screening and early treatment. Evidence suggests that PKU
María Jesús Leal-Witt, Eugenia Rojas-Agurto, Manuel Muñoz-González, Felipe Peñaloza, Carolina Arias, Karen Fuenzalida, Daniel Bunout, Verónica Cornejo, Alejandro Acevedo   +8 more
doaj   +1 more source

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

Italian Journal of Pediatrics, 2018
Background Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms.
Luciano De Simone, Laura Capirchio, Rosa Maria Roperto, Paola Romagnani, Michele Sacchini, Maria Alice Donati, Maurizio de Martino   +6 more
doaj   +1 more source

AppQ: Warm-starting App Recommendation Based on View Graphs [PDF]

arXiv, 2021
Current app ranking and recommendation systems are mainly based on user-generated information, e.g., number of downloads and ratings. However, new apps often have few (or even no) user feedback, suffering from the classic cold-start problem. How to quickly identify and then recommend new apps of high quality is a challenging issue.
arxiv  

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]

, 2016
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès Saladelafont, Elisenda, Fernández Ramos, Joaquín A., Friedman, Jennifer, Garcia Cazorla, Àngels, Honzik, Tomas, Horvath, Gabriella, Jeltsch, Kathrin, Jung Klawitter, Sabine, Kurian, Manju A., Kuseyri, Oya, Lopez Laso, Eduardo, MASTRANGELO, Mario, Opladen, Thomas, Pearson, Toni, Pons, Roser, Scholl Bürgi, Sabine, Wassenberg, Tessa   +16 more
core   +1 more source

Pediatric Liver Transplantation: Then and Now [PDF]

, 2020
This paper reviews the past 50 years of liver transplantation in children from the perspective of patient demographics, perioperative patient management, surgical techniques, immunosuppression and patient ...
Banh, DPT, Carullo, PC, Davis, PJ, Tran, LT, Vitu, C   +4 more
core   +1 more source

The protein cost of metabolic fluxes: prediction from enzymatic rate laws and cost minimization [PDF]

, 2016
Bacterial growth depends crucially on metabolic fluxes, which are limited by the cell's capacity to maintain metabolic enzymes. The necessary enzyme amount per unit flux is a major determinant of metabolic strategies both in evolution and bioengineering.
arxiv   +1 more source