Erin Huggins

Journal Article Mol Genet Metab · March 4, 2026 OBJECTIVE: Newborn screening (NBS) now allows for early detection and clinical monitoring in infants and children with late-onset Pompe disease (LOPD), potentially identifying those needing early enzyme replacement therapy (ERT). Early symptom onset has be ... Full text Link to item Cite

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.

Journal Article J Bone Miner Res · March 2, 2026 Hypophosphatasia (HPP) is the rare metabolic disorder caused by variants in the ALPL gene, resulting in deficient activity of tissue-nonspecific alkaline phosphatase (ALP). This leads to accumulation of substrates contributing to impaired bone mineralizati ... Full text Open Access Link to item Cite

Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.

Journal Article Pediatr Neurol · November 2025 Pompe disease (PD), an autosomal recessive lysosomal disorder, results in glycogen accumulation in muscle cells, leading to progressive muscle weakness and respiratory insufficiency. Newborn screening (NBS) has improved outcomes for infantile-onset PD by e ... Full text Link to item Cite

The ALPL gene variant project: results of the first 100 reclassified variants.

Journal Article JBMR Plus · June 2025 Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the alkaline phosphatase-liver (ALPL) gene, which encodes tissue nonspecific alkaline phosphatase. ... Full text Link to item Cite

Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.

Journal Article Am J Med Genet A · February 2025 Variation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small insertions and deletions, or structural variants in non-coding genomic regions will be detrimental ... Full text Link to item Cite

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III.

Journal Article Mol Genet Metab Rep · September 2024 BACKGROUND: Biochemical testing is a common first-tier approach in the setting of genetic evaluation of patients with unexplained developmental delay. However, results can be unclear, and a plan for second-tier analysis must be determined based on the pati ... Full text Link to item Cite

Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease.

Journal Article JIMD Rep · September 2024 Gaucher disease (GD) type 3 is an autosomal recessive lysosomal disease caused by deficiency of β-glucocerebrosidase (GCase) and encompasses a spectrum of cardiac, neurological, and ophthalmological abnormalities. Although the clinical presentations can be ... Full text Link to item Cite

The Global ALPL gene variant classification project: Dedicated to deciphering variants.

Journal Article Bone · January 2024 BACKGROUND: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase (TNSALP). Variants o ... Full text Link to item Cite

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.

Journal Article Mol Genet Metab Rep · September 2023 IMPORTANCE: Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has ident ... Full text Link to item Cite

Recommendations to improve the patient experience and avoid bias when prenatal screening/testing.

Journal Article Disability and health journal · April 2023 While prenatal screening and testing have expanded substantially over the past decade and provide access to more genetic information, expectant parents are more likely to describe the diagnosis experience as negative than positive. In addition, the convers ... Full text Cite

Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.

Journal Article Int J Mol Sci · November 29, 2022 Historically, disease burden and treatment responses in patients with Gaucher disease (GD) was assessed by monitoring clinical data, laboratory, imaging, chitotriosidase (CHITO), and other biomarkers; however, these biomarkers lack specificity and CHITO is ... Full text Open Access Link to item Cite

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

Journal Article Mol Genet Metab · March 2022 PURPOSE: Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up. METHODS: Twenty infants ages 6-21 months with LOPD diagnosed by NBS underwent systematic clinical ... Full text Open Access Link to item Cite

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Journal Article Front Genet · 2022 Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified in the ... Full text Link to item Cite

Targeted long-read sequencing identifies missing disease-causing variation.

Journal Article Am J Hum Genet · August 5, 2021 Despite widespread clinical genetic testing, many individuals with suspected genetic conditions lack a precise diagnosis, limiting their opportunity to take advantage of state-of-the-art treatments. In some cases, testing reveals difficult-to-evaluate stru ... Full text Link to item Cite

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.

Journal Article Mol Genet Metab Rep · June 2021 Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatmen ... Full text Open Access Link to item Cite

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.

Journal Article Mol Genet Metab Rep · December 2020 Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the ALPL gene. This leads to deficiency of tissue non-specific alkaline phosphatase (TNSALP), resulting in decreased mineralization of the bones and/or teeth and m ... Full text Link to item Cite