Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature
Oliver Heath, James Pitt, Simone Mandelstam et al. · JIMD Reports · 2021
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Clinical Biochemistry
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Identification and Antibiotic Profiling of Wohlfahrtiimonas chitiniclastica, an Underestimated Human Pathogen
Anna Kopf, Boyke Bunk, Sina M. Coldewey et al. · Frontiers in Microbiology · 2021
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Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
Gwendolyn Gramer, Georg F. Hoffmann, Julia B. Hennermann · Molecular Genetics and Metabolism Reports · 2021
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ANALISA JUMLAH KOLONI BAKTERI Escherichia coli PADA MEDIA NUTRIENT AGAR DENGAN PELARUT AKUADES DAN AIR MINUM DALAM KEMASAN (AMDK)
Bastian Darwin, Indah Sari, Annisa Fitri · Masker Medika · 2021
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Nanopore Sequencing Provides Rapid and Reliable Insight Into Microbial Profiles of Intensive Care Units
Guilherme Marcelino Viana de Siqueira, Felipe Marcelo Pereira-dos-Santos, Rafael Silva-Rocha et al. · Frontiers in Public Health · 2021
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Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
Archana Natarajan, Rita Christopher, Shruti V. Palakuzhiyil et al. · Molecular Genetics and Metabolism Reports · 2021
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Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants
Tessa M. A. Peters, Irma Lammerts van Bueren, Ben P.B.H. Geurtz et al. · JIMD Reports · 2021
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Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn et al. · Orphanet Journal of Rare Diseases · 2021
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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz et al. · Frontiers in Pediatrics · 2021
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Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients
Zhuwen Gong, Lili Liang, Wenjuan Qiu et al. · Frontiers in Genetics · 2021
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Elizabethkingia miricola Causes Intracranial Infection: A Case Study
Hongguang Gao, Tian Li, Li Feng et al. · Frontiers in Medicine · 2021
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Differential Regulation of Damage-Associated Molecular Pattern Release in a Mouse Model of Skeletal Muscle Ischemia/Reperfusion Injury
Hiroaki Furubeppu, Takashi Ito, Midori Kakuuchi et al. · Frontiers in Immunology · 2021
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Diagnosis of Enterococcus faecalis meningitis associated with long-term cerebrospinal fluid rhinorrhoea using metagenomics next-generation sequencing: a case report
Xiaobo Zhang, Chao Jiang, Chaojun Zhou · BMC Infectious Diseases · 2021
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The multidimensional nature of metagenomics drives interdisciplinary diagnostics
Jutte J.C. de Vries · EBioMedicine · 2021
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Evaluation of Autof MS 1000 and Vitek MS MALDI-TOF MS System in Identification of Closely-Related Yeasts Causing Invasive Fungal Diseases
Qiaolian Yi, Meng Xiao, Meng Xiao et al. · Frontiers in Cellular and Infection Microbiology · 2021
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64 Microbial patterns and antibiotic susceptibility in blood culture isolates of septicemia suspected children in the pediatrics ward of a tertiary care hospital
Saima Rauf, Muhammad Sarfraz Khan, Arslan Kareem et al. · BMJ Paediatrics Open · 2021
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The burden of pharmacological treatment on health-related quality of life in people with a urea cycle disorder: a qualitative study
Gillian Yeowell, Danielle Stephanie Burns, Francis Fatoye · Journal of Patient-Reported Outcomes · 2021
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Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
Anastasia Minenkova, Erwin E W Jansen, Jessie Cameron et al. · PLoS ONE · 2021
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Clasificadores de Aprendizaje Automático aplicados a Datos RKI MALDI-TOF de Espectrometría de Masa de Bacterias
Andrea Alejandra Rey · Tecnología y Ciencia · 2021
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RAPD and ERIC-PCR coupled with HRM for species identification of non-dysenteriae Shigella species; as a potential alternative method
Babak Pakbin, Afshin Akhondzadeh Basti, Ali Khanjari et al. · BMC Research Notes · 2021
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