Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty | Orphanet Journal of Rare Diseases
Debuf MJ, Benoit V, Cassart M, Gajewska K, Gauquier N, Meunier C, et al. Agenesis of olfactory bulbs:…
Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes | Orphanet Journal of Rare Diseases
Seven patients (6 males and 1 female) presented with ten episodes of acute encephalopathy, and cerebral edema was…
Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations | Orphanet Journal of Rare Diseases
General principles of nutritional management Early diagnosis and management of IEM are essential. Newborn screening programs for IEM…
A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy | Orphanet Journal of Rare Diseases
Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes.…
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases
O’Donnell AE. Bronchiectasis – a clinical review. N Engl J Med. 2022;387(6):533–45. Article PubMed Google Scholar Flume PA,…
Synthetic lethality in cancer drug discovery: challenges and opportunities
Hartwell, L. H., Szankasi, P., Roberts, C. J., Murray, A. W. & Friend, S. H. Integrating genetic approaches…