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Paper Details

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Mol Genet Metab
13
2020
-, CDG, D-galactose, DBSs, N, PGM1, PGM1-, Phosphoglucomutase 1, Phosphoglucomutase 1 deficiency, Phosphoglucomutase-1, Phosphoglucomutase-1 deficiency, carbohydrate, cardiac defects, cleft palate, congenital disorder of glycosylation, diarrhea, endocrine anomalies, episodic hypoglycemia, galactose, growth delay, hepatic dysfunction, hepatic failure, hypoglycemia, infants, lactose, lactose intolerance, muscle involvement, neonatal, neonatal blood spots, neurologic involvement, patients
Author NameAffiliation
Stephanie GrunewaldGreat Ormond Street Hospital Foundation Trust, UCL Institute of Child Health
Lihadh Al-GazaliCollege of Medicine & Health Sciences, UAE University
Annette FeigenbaumUniversity of California San Diego and Rady Children's Hospital
Dirk J LefeberDonders Institute for Brain, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences
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Release 1.2