Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
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Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Neurol 96:627-628, Pinto, W.,et al, 2021
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Disorientation and Vertebral Fractures
Lancet 353:1848, McConnaughey,D.,et al, 1999
Clinicopath Conf
Genetic Hemochromatosis, Micronodular Cirrhosis of Liver, Case 10-1997, NEJM 336:939-94797., , 1997
Reflex Sympathetic Dystrophy
BMJ 310:1645-1648, Paice,E., 1995
Reflex Sympathetic Dystrophy in Children
BMJ 310:1648-1649, Lloyd-Thomas,A.R.&Lauder,G., 1995
Vertebral Osteomyelitis Presenting as Spinal Compression Fracture, Six Pts with Underlying Osteoporosis
Arch Int Med 148:417-423, McHenry,M.C.,et al, 1988
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Celiac Sprue & Refractory Sprue
Gastroenter. 75:3071978., Trier,J.S.,et al, 1978
Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
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Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964