Results 31 to 40 of about 174,613,300 (296)

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency

Molecular Genetics and Metabolism Reports, 2019
Argininosuccinate lyase (ASL) deficiency impairs the function of the urea cycle that detoxifies blood ammonia in the body. Mutation that occurs in the ASL gene is the cause of occurrence of ASL deficiency (ASLD).
Ernie Zuraida Ali, Yusnita Yakob, Lock Hock Ngu   +2 more
doaj   +1 more source

Pineal cysts may promote pubertal development in girls with central precocious puberty: a single-center study from China

Frontiers in Endocrinology
IntroductionPineal cysts have long been considered a benign intracranial variation. However, in our clinical practice, it has been observed that some children with central precocious puberty (CPP) who have pineal cysts experience rapid progression in ...
Shuxian Yuan, Yifan Lin, Yixuan Zhao, Mengmeng Du, Shijie Dong, Yongxing Chen, Haiyan Wei   +6 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

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other

Metabolites, 2022
In inborn errors of metabolism, such as amino acid breakdown disorders, loss of function mutations in metabolic enzymes within the catabolism pathway lead to an accumulation of the catabolic intermediate that is the substrate of the mutated enzyme.
Namgyu Lee, Dohoon Kim
doaj   +1 more source

Family Exhibiting Cerebellar-Like Ataxia, Photosensitivity and Shortness of Stature - a New Inborn Error of Tryptophan Metabolism

, 1983
Two cases in a brother and sister of a previously undescribed hereditary syndrome are reported. The features, which include shortness of stature, photosensitivity and cerebellar-like ataxia, are attributed to a new inborn error of tryptophan metabolism.
Patrick A Toseland, David A Fenton, John D Wilkinson   +2 more
core   +1 more source

Machine Learning‐Driven Design of Multicomponent Bone Inorganic Matrix Mimicking Scaffolds for Osteogenesis Enhanced by Neurogenesis

Advanced Science, EarlyView.
Schematic illustration of development of experimental datasets and algorithm models, screening and preparation of the scaffolds and their applications in vivo. ABSTRACT Bone defects require materials with osteogenic, neurogenic, and angiogenic activity, yet designing such materials within high‐dimensional compositional spaces remains challenging. Here,
Kunlu Lin, Ying Yang, Chuyao Zhou, Hanyue Mao, Zhiquan Zhang, Libangxi Liu, Xiaoying Yu, Haoming Liu, Long Liu, Xiaoyan Wang   +9 more
wiley   +1 more source

Clinical and genetic characteristics of boys with congenital hypogonadotropic hypogonadism: a single-center experience

BMC Pediatrics
Context Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by deficient secretion or action of gonadotropin-releasing hormone. While its characteristics are well-documented in adults, data from prepubertal patients remain limited ...
Dongxia Fu, Yongxing Chen, Xue Wu, Huizhen Wang, Jing Gao, Haiyan Wei   +5 more
doaj   +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

Highly‐Time‐Resolved Measurements of Tryptophan's Distribution and Homeostatic Regulation in Live, Intact Animals

Advanced Science, EarlyView.
Using a novel, aptamer‐based biosensor, here we have performed 20‐s‐resolved, in situ measurements of plasma‐free tryptophan in the jugular veins of live rats (blue). This unprecedented time‐resolution provides insights into the regulation of tryptophan metabolism in live, intact animals.
Yuyang Wu, Chelsea N. Brown, Zeki Duman, Rose Mery Bakestani, Carl M. Kirkpatrick, Joao Hespanha, Tod Kippin, Kevin W. Plaxco   +7 more
wiley   +1 more source