Related references
Note: Only part of the references are listed.Global mitochondrial protein import proteomics reveal distinct regulation by translation and translocation machinery
Jasmin Adriana Schaefer et al.
MOLECULAR CELL (2022)
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
Ligia S. Almeida et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
Proteomics of human biological fluids for biomarker discoveries: technical advances and recent applications
Loic Dayon et al.
EXPERT REVIEW OF PROTEOMICS (2022)
Liquid biopsy: a step closer to transform diagnosis, prognosis and future of cancer treatments
Saife N. Lone et al.
MOLECULAR CANCER (2022)
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Shruti Marwaha et al.
GENOME MEDICINE (2022)
Evaluation of Neurofilament Light Chain as a Biomarker of Neurodegeneration in X-Linked Childhood Cerebral Adrenoleukodystrophy
Hongge Wang et al.
CELLS (2022)
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I
Tong Zhang et al.
MOLECULAR GENETICS AND METABOLISM (2022)
Proteomic biomarkers in Gaucher disease
Lukasz Pawlinski et al.
JOURNAL OF CLINICAL PATHOLOGY (2021)
Machine learning for precision medicine
Sarah J. MacEachern et al.
GENOME (2021)
Proteomics for the study of new biomarkers in Fabry disease: State of the art
Federica Rossi et al.
MOLECULAR GENETICS AND METABOLISM (2021)
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA
Victor J. Alvarez et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
An international classification of inherited metabolic disorders (ICIMD)
Carlos R. Ferreira et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2021)
Blood phenylalanine reduction reverses gene expression changes observed in a mouse model of phenylketonuria
Rachna Manek et al.
SCIENTIFIC REPORTS (2021)
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease
Diane J. Sutcliffe et al.
SCIENTIFIC REPORTS (2021)
Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders
Serena Raimo et al.
REDOX BIOLOGY (2021)
Using machine learning approaches for multi-omics data analysis: A review
Parminder S. Reel et al.
BIOTECHNOLOGY ADVANCES (2021)
Plasma Proteomic Analysis in Morquio A Disease
Jose V. Alvarez et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses
Brigitte T. A. van den Broek et al.
BLOOD ADVANCES (2021)
The diagnosis of inborn errors of metabolism by an integrative multi-omics approach: A perspective encompassing genomics, transcriptomics, and proteomics
Sarah L. Stenton et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2020)
Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease
Ivan D. Doykov et al.
JOURNAL OF MEDICAL GENETICS (2020)
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Hane Lee et al.
GENETICS IN MEDICINE (2020)
Targeted and Untargeted Proteomics Approaches in Biomarker Development
Constance A. Sobsey et al.
PROTEOMICS (2020)
Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain
Valeria De Pasquale et al.
BIOMOLECULES (2020)
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease
Abdellah Tebani et al.
JOURNAL OF CLINICAL MEDICINE (2020)
Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy
Phillip A. Richmond et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)
Biomarkers in Anderson-Fabry Disease
Irene Simonetta et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
A Critical Review of Bottom-Up Proteomics: The Good, the Bad, and the Future of This Field
Emmalyn J. Dupree et al.
PROTEOMES (2020)
Target identification of natural medicine with chemical proteomics approach: probe synthesis, target fishing and protein identification
Xiao Chen et al.
SIGNAL TRANSDUCTION AND TARGETED THERAPY (2020)
High-throughput quantitative top-down proteomics
Kellye A. Cupp-Sutton et al.
MOLECULAR OMICS (2020)
Current status of MALDI-TOF mass spectrometry in clinical microbiology
Tsung-Yun Hou et al.
JOURNAL OF FOOD AND DRUG ANALYSIS (2019)
Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice
Fan Yang et al.
MOLECULAR BRAIN (2019)
Re: Urine Proteomic Profiling in Patients with Nephrolithiasis and Cystinuria
Dean G. Assimos
JOURNAL OF UROLOGY (2019)
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Laure Fresard et al.
NATURE MEDICINE (2019)
Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy
Paul J. Orchard et al.
SCIENTIFIC REPORTS (2019)
Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems
J. Victor Alvarez et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics
Israa T. Ismail et al.
METABOLITES (2019)
Vertical and horizontal integration of multi-omics data with miodin
Benjamin Ulfenborg
BMC BIOINFORMATICS (2019)
Urine proteomic profiling in patients with nephrolithiasis and cystinuria
Larisa Kovacevic et al.
INTERNATIONAL UROLOGY AND NEPHROLOGY (2019)
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition
Piotr Grabowski et al.
MOLECULAR & CELLULAR PROTEOMICS (2019)
Implementation of Clinical Proteomics: A Step Closer to Personalized Medicine?
Antonia Vlahou
PROTEOMICS CLINICAL APPLICATIONS (2019)
Urinary proteome in inherited nephrolithiasis
Giovanna Capolongo et al.
UROLITHIASIS (2019)
Multiomics tools for the diagnosis and treatment of rare neurological disease
L. M. Crowther et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Machine Learning Predicts the Yeast Metabolome from the Quantitative Proteome of Kinase Knockouts
Aleksej Zelezniak et al.
CELL SYSTEMS (2018)
Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease
Gabriel Velez et al.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY (2018)
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
K. Splinter et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism
Michele Mussap et al.
ANNALS OF TRANSLATIONAL MEDICINE (2018)
Proteomics: Technologies and Their Applications
Bilal Aslam et al.
JOURNAL OF CHROMATOGRAPHIC SCIENCE (2017)
MALDI versus ESI: The Impact of the Ion Source on Peptide Identification
Wiebke Maria Nadler et al.
JOURNAL OF PROTEOME RESEARCH (2017)
Revisiting biomarker discovery by plasma proteomics
Philipp E. Geyer et al.
MOLECULAR SYSTEMS BIOLOGY (2017)
Targeted proteome analysis of single-gene deletion strains of Saccharomyces cerevisiae lacking enzymes in the central carbon metabolism
Fumio Matsuda et al.
PLOS ONE (2017)
Selected reaction monitoring approach for validating peptide biomarkers
Qing Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
Arunabha Ghosh et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2017)
A Comprehensive Guide for Performing Sample Preparation and Top-Down Protein Analysis
Matthew P. Padula et al.
PROTEOMES (2017)
Targeted proteomics: Current status and future perspectives for quantification of food allergens
Nagib Ahsan et al.
JOURNAL OF PROTEOMICS (2016)
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers
Marianna Caterino et al.
MOLECULAR BIOSYSTEMS (2016)
Mitochondrial protein functions elucidated by multi-omic mass spectrometry profiling
Jonathan A. Stefely et al.
NATURE BIOTECHNOLOGY (2016)
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI
Wendy E. Heywood et al.
ANALYTICAL CHEMISTRY (2015)
Gender-specific plasma proteomic biomarkers in patients with Anderson-Fabry disease
Zsuzsanna Hollander et al.
EUROPEAN JOURNAL OF HEART FAILURE (2015)
SRM/MRM targeted proteomics as a tool for biomarker validation and absolute quantification in human urine
George Mermelekas et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2015)
Parallel Reaction Monitoring: A Targeted Experiment Performed Using High Resolution and High Mass Accuracy Mass Spectrometry
Navin Rauniyar
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2015)
Quantitative Proteomics Reveals the Roles of Peroxisome-associated Proteins in Antiviral Innate Immune Responses
Mao-Tian Zhou et al.
MOLECULAR & CELLULAR PROTEOMICS (2015)
Early markers of Fabry disease revealed by proteomics
V. Matafora et al.
MOLECULAR BIOSYSTEMS (2015)
Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice
Guilherme Baldo et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms
Sandra Sirrs et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Urine proteomic analysis in cystinuric children with renal stones
Larisa Kovacevic et al.
JOURNAL OF PEDIATRIC UROLOGY (2015)
A New Workflow for Proteomic Analysis of Urinary Exosomes and Assessment in Cystinuria Patients
Matthieu Bourderioux et al.
JOURNAL OF PROTEOME RESEARCH (2015)
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies
Burcu Ayoglu et al.
EMBO MOLECULAR MEDICINE (2014)
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency
Anders V. Edhager et al.
MOLECULAR GENETICS AND METABOLISM (2014)
The Identification of New Biomarkers for Identifying and Monitoring Kidney Disease and Their Translation into a Rapid Mass Spectrometry-Based Test: Evidence of Presymptomatic Kidney Disease in Pediatric Fabry and Type-I Diabetic Patients
Victoria Manwaring et al.
JOURNAL OF PROTEOME RESEARCH (2013)
Targeted Data Extraction of the MS/MS Spectra Generated by Data-independent Acquisition: A New Concept for Consistent and Accurate Proteome Analysis
Ludovic C. Gillet et al.
MOLECULAR & CELLULAR PROTEOMICS (2012)
Proteomic Analysis and Discovery Using Affinity Proteomics and Mass Spectrometry
Niclas Olsson et al.
MOLECULAR & CELLULAR PROTEOMICS (2011)
The proteome of lysosomes
Bernd A. Schroeder et al.
PROTEOMICS (2010)
Proteomics as Applied to Inherited Metabolic Diseases
Eva Richard et al.
CURRENT PROTEOMICS (2009)
A brief history of mass spectrometry
Jennifer Griffiths
ANALYTICAL CHEMISTRY (2008)
Two-dimensional polyacrylamide gel electrophoresis (2D-PAGE): advances and perspectives
Haleem J. Issaq et al.
BIOTECHNIQUES (2008)
Activity-based probes as a tool for functional proteomic analysis of proteases
Marko Fonovic et al.
EXPERT REVIEW OF PROTEOMICS (2008)
Applications of mass spectrometry in the study of inborn errors of metabolism
PT Clayton
JOURNAL OF INHERITED METABOLIC DISEASE (2001)
Inborn errors of metabolism around time of birth
JV Leonard et al.
LANCET (2000)