Unrecognized Adult Phenylketonuria
NEJM 289:395, 1973, 289:1040, 1973, 290:1084., Perry,T.,et al, 1974
Epsilon Aminocaproic Acid & Possible Pulmonary Emboli-Correspondance
NEJM 290:861, Jotkowitz,S., 1974
Diagnosis of Fabry's Disease by Tear-Galactosidase A-Correspondence NEJM 290:57
1974., , 1974
Niemann-Pick Disease
Correspondence NEJM 289:590, Dacremont,G.,et al, 1973
Infantile Metachromatic Leukodystrophy
NEJM 288:1365, 14051973., Leroy,J.,et al, 1973
Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973
Tay-Sachs Disease-The Use of Tears for the Detection of Heterozygotes
NEJM 289:1072, Carmody,P.,et al, 1973
Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
NEJM 289:286, Hecht,F.,et al, 1973
Teratogenic Effect of Anticonvulsnats
Lancet 198, 1973 Jan., , 1973
Pathology of Malignant Hyperpyrexia
BMJ Editorial 249, 1973, Feb., , 1973
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
Treating Problem Children with Stimulant Drugs
NEJM 289:407, Sroufe,L.A.,et al, 1973
Hereditary Quadriceps Myopathy
JNNP 36:1041, Espir,M.L.E.,et al, 1973
The Facioscapulohumeral Synd, in Clinical Studies in Myology, Amsterdam, Excerpta Medica
p498-501, VanWijngaarden,G.K.&Bethlem,J., 1973
Preclinical Detection of Dystrophia Myotonica
BMJ 124, 1972 April., , 1972
Antifibrinolytic Activity During Admin of Epsilon-Aminocaproic Acid in Patients with Subarachnoid Hemorrhage
Neurol 22:406, Nibbelink,D.W.,et al, 1972
Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
Familiar Basilar Impression
Neurol 22:554, Paradis,R.,et al, 1972
Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
Neurol 22:49, Nakano,K.K.,et al, 1972
Maternal Epilepsy & Abnormalities of the Fetus & Newborn
Lancet 839, Oct1972., Speidel,B.,et al, 1972
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
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
The Mucopolysaccharidoses
(Ed) , 4th Edition, the C. V. Mosby Co, 1971, Chp. 11, p. p. 521-686., McKusick,V.A., 1971
Myasthenia Gravis & Hyperthyroidism Occurring in Two Sisters
Neurol 21:377, Namba,T.,et al, 1971
Dominant Juvenile Optic Atrophy
Arch Ophthalmol 85:133, Caldwell,J.,et al, 1971
Polyneroupathies of Undetermined Cause
Acta Neurol Scand (Supp) :5970., Prineas,J., 1970
Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970
Hunter's Syndrome, In Recognizable Patterns Of Human Malformation, Genetic, Embryologic, & Clinical Aspects, by Smith
W. B. , Saunders Co. , 1970, 248-249., David,W., 1970
Ocular Myopathy
Arch Neurol 20:1, Magora,A.,et al, 1969
The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968
Myopathy of the Quadriceps Muscles
J Neurol Sci 7:201, VanWijngaarden,G.K.,et al, 1968
Spastic Pseudosclerosis (Creutzfeldt-Jakob Dis) Van Rossum A. , In:Vinken, P. J.
Handbk of Clin Neurol Vol 6 North-Holland Publ. Amster 1968 Ch 28, p 726., Bruyn,G.W., 1968
Huntington's Chorea
Bruyn, G. W. In Vinken & Bruyn, Handbk of Clin Neurol, North-Holland Publ Co, Amsterdam, 6:298, , 1968
Inherited Aminoacidopathies Demonstrating Vitamin Dependency
NEJM 281:145, Rosenberg,L., 1965
Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964
The Cornelia de Lange Syndrome
J Pediatr 63:1000-1020, Ptacek,L.J., 1963
Familial and Conjugal Multiple Sclerosis
Brain 86:315-332, Schapira,K.,et al, 1963
Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962
Microcephaly
Arch Dis Child 37:623-627, Davies,H.,et al, 1962
Clinical Study of Nine Patients with ReNU Syndrome
, Okamoto,N.,et al,