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Article
Genetics & Heredity
Amanda Barone Pritchard et al.
Summary: This article presents a 27-year experience of liver transplantation (LT) in patients with inborn errors of metabolism (IEMs). The study assessed the outcomes of 35 IEM patients who underwent LT and found that the procedure was generally successful in preventing metabolic decompensation. However, LT did not improve pre-existing developmental differences or risk to other organ systems.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Deborah A. Bilder et al.
Summary: The study shows that there is a relationship between phenylalanine levels and inattention in adult PKU patients, suggesting that reducing phenylalanine levels may improve symptoms of inattention. The greatest improvements in inattention symptoms were seen in participants with the largest reductions in plasma phenylalanine levels, supporting the value of this as a therapeutic goal.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Review
Gastroenterology & Hepatology
Noelle H. Ebel et al.
Summary: This article examines the racial and ethnic, socioeconomic, and geographic disparities in pediatric transplantation. To achieve equity, stakeholder engagement is necessary at all levels, including providers and health delivery systems, learning networks, institutions, and society.
LIVER TRANSPLANTATION
(2022)
Article
Pediatrics
Nathalie Auger et al.
Summary: This study retrospectively investigated the birth outcomes of children with inborn errors of metabolism in Canada between 2006 and 2019. The results showed that these children had a higher risk of preterm birth, low birth weight, congenital anomalies, and other adverse birth outcomes. The study suggests that inborn errors of metabolism may affect fetal development and could be indicated by adverse birth outcomes.
PEDIATRIC RESEARCH
(2022)
Review
Biochemistry & Molecular Biology
Patrizia Cioni et al.
Summary: The development of enzyme-based human therapies has greatly increased in recent decades due to advances in understanding molecular mechanisms and characterizing catalytic activity. Approved enzymes find applications in various fields, but challenges such as immunogenicity and instability need to be addressed. Chemical modification, targeted delivery, and genetic manipulation are explored to reduce toxicity and improve enzyme availability and targeting.
CURRENT MEDICINAL CHEMISTRY
(2022)
Article
Pediatrics
Abdoulaye Ouattara et al.
Summary: This study investigated the determinants of quality of life in children with inborn errors of metabolism with restricted diet. The results showed that anxiety and behavioral problems were the most important factors associated with poorer quality of life. Parental anxiety, younger age at diagnosis, and a disease requiring an emergency diet were also associated with poorer quality of life. Psychosocial factors appear to be major determinants of quality of life impairment in these children.
JOURNAL OF PEDIATRICS
(2022)
Review
Clinical Neurology
Yoshiyuki Suzuki
Summary: Chaperone therapy is a new molecular therapeutic approach primarily for lysosomal diseases, aiming to stabilize mutant enzymes to correct molecular pathology. This approach is expected to be applicable to various diseases, and chaperone drugs are already in medical practice.
BRAIN & DEVELOPMENT
(2021)
Article
Endocrinology & Metabolism
Florin Boesch et al.
Summary: The study found that children and adolescents with IT-IEM have lower health-related quality of life compared to healthy children, and current dietary treatment is a significant predictor of their quality of life. There are significant differences in psychosocial health and emotional functioning between non-acute and acute IT-IEM patients.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Endocrinology & Metabolism
Femke Molema et al.
Summary: The study provided a general overview of liver and/or kidney transplantation in AOA patients in Europe, with posttransplant survival rates ranging from 78% to 100% and the highest risk of mortality within 14 days posttransplantation. Neurological complications were mainly reported in specific types of MMA patients, while nonneurological complications were more common in MMA, PA, and UCD patients, with virtually no occurrences in MSUD patients.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Review
Biotechnology & Applied Microbiology
Garima Sharma et al.
Summary: The revolutionary CRISPR-Cas9 technology has therapeutic potential against genetic disorders and is being tested in clinical trials for cancer treatment. In addition to therapeutic applications, it can also be used to create genetic animal models for drug discovery. However, challenges and safety concerns still need to be addressed in CRISPR-Cas9-mediated therapeutic approaches.
Article
Endocrinology & Metabolism
Carlos R. Ferreira et al.
Summary: The International Classification of Inherited Metabolic Disorders (ICIMD) is a comprehensive classification system involving input from a large number of experts and endorsement from major metabolic societies globally. It aims to improve understanding of the interconnections between different conditions sharing similar characteristics, and guarantees continued relevance through regular curation and expert advice.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Review
Biotechnology & Applied Microbiology
Jerry R. Mendell et al.
Summary: Hereditary diseases are caused by gene mutations, affecting millions of Americans, and gene therapy using adeno-associated virus (AAV) has shown promise in treating these diseases. Five treatments have been approved for commercialization, with many more in clinical trials, showcasing the potential of gene therapy in treating a wide range of genetic disorders.
Article
Endocrinology & Metabolism
Madhukar Aryal et al.
Summary: Pegvaliase treatment led to the development of anti-drug antibodies, with neutralizing antibodies developing early and influencing efficacy. However, with prolonged treatment, the majority of subjects achieved substantial and sustained blood Phe reduction, including those with higher antibody titers.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Genetics & Heredity
Joseph Muenzer et al.
Summary: A study on the effects of intravenous idursulfase treatment on MPS II patients using mixed modeling showed significant improvements in several clinical parameters after at least 8 years of treatment, with consistent predicted effects across different age groups, but most favorable outcomes in patients aged < 18 months at treatment initiation.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Endocrinology & Metabolism
Melissa Lah et al.
Summary: Pegvaliase-pqpz (Palynziq) is an enzyme substitution therapy approved by the FDA for treating phenylketonuria in adults with high blood phenylalanine levels. The therapy carries a high risk of anaphylaxis, and some patients were able to maintain low levels of blood phenylalanine without additional treatment. The dosage and timing of response were not related to patient factors.
MOLECULAR GENETICS AND METABOLISM
(2021)
Review
Surgery
Julia Oezen et al.
Summary: Pediatric liver transplantation (PLT) has good outcomes at experienced centers, but there is ongoing debate about inferior results in young infants. A 20-year retrospective study compared outcomes of infants and older recipients, showing that children can achieve excellent results regardless of age at PLT. Infants were more prone to complications, but significant predictors for patient and graft loss differed by age group.
TRANSPLANT INTERNATIONAL
(2021)
Article
Medicine, Research & Experimental
Yulan Qi et al.
Summary: Studies on pegvaliase showed that an induction/titration/maintenance dosing regimen can stabilize pharmacokinetics and maintain efficacy. Early immune response led to high drug clearance and minimal reduction in blood Phe levels; as immune response matured, drug clearance decreased and blood Phe levels significantly decreased.
CTS-CLINICAL AND TRANSLATIONAL SCIENCE
(2021)
Article
Endocrinology & Metabolism
Krista Viau et al.
Summary: Adults with PKU treated with pegvaliase have normal nutritional intake, protein, micronutrient, and fatty acid status when consuming a normal protein diet, but suboptimal diet quality and some individuals may experience food neophobia.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Genetics & Heredity
Peter J. Koch et al.
Summary: Innovative ideas for treating genetic disorders have emerged in the past decade, with gene and protein replacement therapies, stem cell approaches like iPSC technology, and genome editing techniques leading the way. While promising for monogenetic disorders affecting single organs, challenges remain for diseases that affect multiple tissues and organs simultaneously. Solutions may lie in correcting phenotypes in the most severely affected tissues.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Darius Adams et al.
Summary: This case series provides real-world experience on the use of pegvaliase in treating patients with phenylketonuria. Key themes include patient education on adverse events, time to efficacy, dietary changes, and the importance of close follow-up to help with dietary adjustments throughout the course of therapy.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2021)
Review
Endocrinology & Metabolism
Sanne J. van der Veen et al.
JOURNAL OF INHERITED METABOLIC DISEASE
(2020)
Article
Medicine, General & Internal
Martin Michaud et al.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES
(2020)
Review
Biochemistry & Molecular Biology
Zhabiz Golkar
Article
Genetics & Heredity
Stephanie Sacharow et al.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2020)
Review
Biochemistry & Molecular Biology
Carolyn Brokowski et al.
JOURNAL OF MOLECULAR BIOLOGY
(2019)
Article
Genetics & Heredity
Nicola Longo et al.
GENETICS IN MEDICINE
(2019)
Article
Public, Environmental & Occupational Health
Donald Waters et al.
JOURNAL OF GLOBAL HEALTH
(2018)
Review
Genetics & Heredity
Joseph Muenzer et al.
ORPHANET JOURNAL OF RARE DISEASES
(2017)
Article
Medicine, Research & Experimental
Sandra Motas et al.
