Results 41 to 50 of about 63,582 (298)

Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, Sarbadhikari SN, S N, Sarbadhikari, Kavitha S, Ananth N Rao, S, Kavitha   +5 more
core  

Cell surface CD11c as a neutrophil aging marker molecule

FEBS Open Bio, EarlyView.
Cell surface CD11chi neutrophils were more aged and had better phagocytic function than CD11c−/lo neutrophils. Transcriptomic analysis of CD11chi neutrophils and CD11c−/lo neutrophils in pediatric population showed that the most difference was seen in infants.
Sophia Koutsogiannaki, Fahd Alhamdan, Erik Malm, Marie Bermudez, Samuel Y. Kim, Koichi Yuki   +5 more
wiley   +1 more source

Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases

, 2023
Inborn errors of immunity are a heterogeneous group of genetically determined disorders that compromise the immune system, predisposing patients to infections, autoinflammatory/autoimmunity syndromes, atopy/allergies, lymphoproliferative disorders, and ...
Vinh, Donald C., Olbrich, Peter, Donald C. Vinh, Peter Olbrich   +3 more
core   +2 more sources

Hepatic-Based Inborn Errors of Metabolism [PDF]

, 2015
Inborn errors of metabolism (IEMs) are a vast, diverse, and heterogeneous set of genetic disorders. Hepatic-based IEMs are a significant cause of morbidity and mortality, and represent a common indication for liver transplantation (LTx) in the ...
Tormod Lund
core  

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

DDIEM - Drug Database for inborn errors of metabolism

, 2020
DDIEM - Drug Database for inborn errors of metabolism is a database on therapeutic strategies for inborn errors of metabolism. These strategies are classified by mechanism and outcome in DDIEM ontology.
Marwa Abdelhakim (8295288), Allan Kamau (8337657), Robert Hoehndorf (38206), Dr Paul Schofield, Ali Raza Syed (8337654), Allan Kamau, Marwa Abdelhakim, Robert Hoehndorf, Senay Kafkas (6178748), Eunice McMurray (8337651), Dr Paul Schofield (8337660), Ali Raza Syed, Eunice McMurray, Senay Kafkas   +13 more
core   +2 more sources

DYSTROPHIC EPIDERMOLYSIS BULLOSA: CASE SERIES OF THREE RELATED PATIENTS

Central Asian Journal of Medical Hypotheses and Ethics
Background: Dystrophic Epidermolysis Bullosa (DEB) is a rare inherited skin disorder characterized by blistering, chronic wounds, and scarring due to mutations in the COL7A1 gene. While epidemiological data are available from certain regions, information
Ulpan Zharylkap, Sanimbala Ospanova, Aigerim Idrissova   +2 more
doaj   +1 more source

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

Molecular Genetics and Metabolism Reports, 2019
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff   +7 more
doaj   +1 more source

Inborn talent exists

, 1998
Evidence shows that outstanding talent is more than the product of determined effort by people of much the same inborn ability. Indications of inborn individual differences come from very early studies of childhood. No randomly selected child has ever
Joan Freeman
core   +1 more source