| Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation |
|
|
|
|
|
|
|
|
|
| The RSH/“Smith–Lemli–Opitz” Syndrome: Historical footnote |
|
|
|
|
|
|
|
|
|
| Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology |
|
|
|
|
|
|
|
|
|
| Mutational spectrum of Smith–Lemli–Opitz syndrome |
|
|
|
|
|
|
|
|
|
| Cognitive and behavioral aspects of Smith–Lemli–Opitz syndrome |
|
|
|
|
|
|
|
|
|
| Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction |
|
|
|
|
|
|
|
|
|
| Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome |
|
|
|
|
|
|
|
|
|
| Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders |
|
|
|
|
|
|
|
|
|
| Mutation‐based growth charts for SEDC and other<i>COL2A1</i>related dysplasias |
|
|
|
|
|
|
|
|
|
| The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and <i>WISP3</i> mutations in 63 affected individuals |
|
|
|
|
|
|
|
|
|
| Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings |
|
|
|
|
|
|
|
|
|
| Ciliary disorder of the skeleton |
|
|
|
|
|
|
|
|
|
| Severe neurologic manifestations from cervical spine instability in spondylo‐megaepiphyseal‐metaphyseal dysplasia |
|
|
|
|
|
|
|
|
|
| Enchondromatosis revisited: New classification with molecular basis |
|
|
|
|
|
|
|
|
|
| TRPV4‐associated skeletal dysplasias |
|
|
|
|
|
|
|
|
|
| From tall to short: The role of TGFβ signaling in growth and its disorders |
|
|
|
|
|
|
|
|
|
| New topics in the skeletal dysplasias |
|
|
|
|
|
|
|
|
|
| Working up autism: The practical role of medical genetics |
|
|
|
|
|
|
|
|
|
| Reversible autism and intellectual disability in children |
|
|
|
|
|
|
|
|
|
| Network‐ and attribute‐based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability |
|
|
|
|
|
|
|
|
|
| The genetic variability and commonality of neurodevelopmental disease |
|
|
|
|
|
|
|
|
|
| Nosology and epidemiology in autism: Classification counts |
|
|
|
|
|
|
|
|
|
| Autism and intellectual disability: Two sides of the same coin |
|
|
|
|
|
|
|
|
|
| Newborn screening for Pompe disease: An update, 2011 |
|
|
|
|
|
|
|
|
|
| The genotype–phenotype correlation in Pompe disease |
|
|
|
|
|
|
|
|
|
| Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques |
|
|
|
|
|
|
|
|
|
| The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management |
|
|
|
|
|
|
|
|
|
| Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten |
|
|
|
|
|
|
|
|
|
| Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using <i>GAA</i> mutations: Lessons learned from 10 years of clinical laboratory testing experience |
|
|
|
|
|
|
✓ |
✓ |
various ethnic backgrounds |
| Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations |
|
|
|
|
|
|
|
|
|
| Toward deconstructing the phenotype of late‐onset Pompe disease |
|
|
|
|
|
|
|
|
|
| The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease |
|
|
|
|
|
|
|
|
|
| Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long‐term follow‐up |
|
|
|
|
|
|
|
|
|