4.7 Article

A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Eleonora Bonaventura et al.

Summary: X-linked adrenoleukodystrophy (X-ALD) is a common genetic disorder caused by variants in the ABCD1 gene. Early diagnosis and treatment can improve patient outcomes and increase survival rates.

FRONTIERS IN NEUROLOGY (2023)

Article Cell Biology

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

Eric J. Mallack et al.

Summary: This study provides an updated analysis of known variants in the ABCD1 gene associated with X-linked adrenoleukodystrophy (ALD). The study confirms previous reports of the frequency and clustering of disease-causing variants and identifies nonrandom clustering of high-density missense variants. The importance of collaboration and the utility of the database as a resource for the scientific and clinical community are also emphasized.

CELLS (2022)

Article Genetics & Heredity

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

Jessica R. C. Priestley et al.

Summary: X-linked adrenoleukodystrophy (X-ALD) is a common peroxisomal disorder with devastating effects, particularly in childhood cases. Early diagnosis and intervention are crucial for better outcomes. Newborn screening has been implemented in Pennsylvania since 2017 and has identified a higher incidence of X-ALD than previously reported, with many cases lacking a known family history.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2022)

Article Genetics & Heredity

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience

Barbara K. Burton et al.

Summary: X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder that poses a severe threat to the lives and quality of life of patients. Successful identification of X-ALD positive cases in newborn screening in Illinois, with comparable results to other states' screening outcomes.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2022)

Article Endocrinology & Metabolism

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines

Eric J. Mallack et al.

Summary: CCALD is typically diagnosed in boys with X-linked adrenoleukodystrophy at an average age of 7.91 years, with 90% of diagnoses occurring between ages 3 and 12. An expert panel achieved 95.7% consensus on recommended surveillance parameters for neuroimaging, including the timing and frequency of MRIs for early identification and monitoring of boys with adrenoleukodystrophy.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

Article Genetics & Heredity

Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study

Yiwen Zhai et al.

Summary: This study focused on using trio-WES for genetic testing in pedigrees with neurodevelopmental disorders, achieving an overall positive diagnostic yield of 54.05%, with 35.13% from SNV/Indel analysis and 18.92% from exome-based CNV analysis. By incorporating CNV detection into conventional SNV/Indel analysis, the diagnostic rate of NDDs was significantly improved.

HUMAN MUTATION (2021)

Article Genetics & Heredity

Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

Jamie Matteson et al.

Summary: This study presents California's experience with X-linked adrenoleukodystrophy (ALD) newborn screening, revealing 355 infants screened positive in the first four years, with 95 males diagnosed with ALD. Long-term follow-up identified 14 males with signs of adrenal involvement, contributing to the growing body of literature on outcomes of ALD newborn screening.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

Article Cell Biology

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Rinse W. Barendsen et al.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)

Article Genetics & Heredity

Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns

Patricia L. Hall et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)

Article Genetics & Heredity

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Katie Wiens et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

Article Genetics & Heredity

Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California

Katharina Schwan et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2019)

Article Endocrinology & Metabolism

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

Femke C. C. Klouwer et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

Article Biochemistry & Molecular Biology

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

Claire E. L. Smith et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)