Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
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
Bone Health in Young Women With Epilepsy After One Year of Antiepileptic Drug Monotherapy
Neurol 70:1586-1593, Pack,A.M.,et al, 2008
Osteoporosis in Neurological Disorders
JNNP 68:543-549, Lloyd,M.E.,et al, 2000
Clinicopath Conf
Genetic Hemochromatosis, Micronodular Cirrhosis of Liver, Case 10-1997, NEJM 336:939-94797., , 1997
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
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972
Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972
Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964