Erin Huggins

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

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

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