Results 101 to 110 of about 174,613,300 (296)

Inborn errors of metabolism

, 2001
Inborn errors of metabolism (IEM) are a group of disorders that causes abnormal function of biochemical pathways. Archibald Garrod des-cribed the first inborn error of metabolism in 1893. He described alkaptonuria in a patient whose urine turned black on
Tuan Norhafizah binti Tuan Zakaria
core  

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening

, 2023
<p>Objective: Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn errors of metabolism.
Oguzhan Tin, Tanyel Zubarioglu, Tin, Oguzhan, Cansever, Mehmet Serif, Cigdem Aktuglu-Zeybek, Zuebarioglu, Tanyel, Aktuglu-Zeybek, Cigdem, Mehmet Serif Cansever, Ertugrul Kiykim, Kiykim, Ertugrul, Zübarioğlu, TANYEL, Kıykım, ERTUĞRUL   +11 more
core   +1 more source

Engineering an artificial trachea: Quantitative benchmarks and modular strategies for mechanics, epithelialization, and vascular integration

FlexMat, EarlyView.
In this work, we first examine the limitations of surgical repair and stenting, including migration, granulation, mucus plugging, and infection. We then translate these failures into engineering constraints involving geometry, mechanics, fixation, degradation, junctional stress, and remodeling.
Yiwei Xu, Hanqing Dai, Qianwang Ye, Wanlu Zhang, Na Wang, Lei Xiong, Ruiqian Guo   +6 more
wiley   +1 more source

Integrative approaches for the diagnosis of inborn errors of metabolism

, 2019
Inborn errors of metabolism (IEM) are a group of inherited genetic disorders affecting Human metabolism. Several examples will be presented illustrating the integration of the diagnostic approaches for different disease groups.info:eu-repo/semantics ...
Rocha, H.
core   +1 more source

Biochemistry and Molecular Biology PBL Cases

MedEdPORTAL, 2006
This resource is a collection of six problem-based learning (PBL) cases suitable for a biochemistry and molecular biology course taken by first- or second-year medical students.
Marshall Anderson
doaj   +1 more source

Liver-directed gene-based therapies for inborn errors of metabolism

, 2020
Inborn errors of metabolism include several genetic disorders due to disruption of cellular biochemical reactions. Although individually rare, collectively they are a large and heterogenous group of diseases affecting a significant proportion of patients.
Piccolo, Pasquale, Brunetti-Pierri, Nicola, Rossi, Alessandro, Alessandro Rossi, Pasquale Piccolo, Nicola Brunetti-Pierri   +5 more
core   +1 more source

High-Risk Screening and Diagnosis of Inborn Errors of Metabolism [PDF]

, 2018
Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular metabolic step.
Giugliani, Roberto, Roberto Giugliani MD, PhD, Kremer,Raquel de, Kremer, Raquel, Raquel de Kremer MD, PhD, Civallero,Gabriel, Giugliani,Roberto, Gabriel Civallero PhD, Civallero, Gabriel Eduardo Santiago   +8 more
core   +1 more source

Lactobacillus derived small RNAs protect against Klebsiella pneumoniae infection

iMeta, EarlyView.
This study reveals that plant‐derived natural products confer protection against carbapenem‐resistant Klebsiella pneumoniae (CRKP) infection via remodeling the gut microbiota, with Lactobacillus identified as the core beneficial genus. Mechanistically, Lactobacillus murinus (L.
Tingting Xu, Xiuying Tao, Dan Fang, Haijie Zhang, Zhiqiang Wang, Yuan Liu   +5 more
wiley   +1 more source

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2023
Ortigoza-Escobar JD.
europepmc   +1 more source

Genetic and Clinical Characteristics of Thalassemia Trait and Construction of LASSO‐Based Model for Its Differentiating From Iron Deficiency Anemia in Northern China

Journal of Clinical Laboratory Analysis, EarlyView.
This study revealed a β‐thalassemia‐trait‐dominated genetic spectrum in Northern‐Chinese patients with microcytic hypochromic anemia, with _αSEA/αα, HBB:c.316_197C>T and HBB:c.124_127delTTCT being the most prevalent α‐ and β‐globin genotypes. Using LASSO regression, we constructed a nomogram based on four routine complete‐blood‐count parameters (RBC ...
Wen‐jie Yu, Feng‐qi Zhang, Jia‐feng Niu, Rui Ma, Yin‐ting Ma, Guang‐ping Li, Yan Long   +6 more
wiley   +1 more source