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acid maltase deficiency
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Showing articles 1400 to 1450 of 1456 << Previous Next >>

Haemophilic Neuromyopathy
JNNP 42:600-605, Defaria,C.R.,et al, 1979

Deficiency of Arylsulfatase B in 2 Brothers Aged 40 & 38 Years (Maroteaux-Lamy Syndrome, Type B)
Ann Neurol 6:315-325, Pilz,H.,et al, 1979

Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
Neurol 29:966, Sipila,I.,et al, 1979

Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979

Cellular Immunity In Guamanians with Amyotrophic Lateral Sclerosis & Parkinsonism-Dementia
NEJM 299:680-685, Hoffman,P.M.,et al, 1978

Sparing of the Onufrowicz Nucleus in Sacral Anterior Horn Lesions
Ann Neurol 4:245-249, Iwata,M.,et al, 1978

Weakness in Malignancy:Evidence for a Remote Effect of Tumor on Distal Axons
Ann Neurol 4:268-274, Barron,S.A.,et al, 1978

Carnitine Deficiency Acute Postpartum Crisis
Ann Neurol 4:558-561, Angelini,C.,et al, 1978

Muscle Fiber-Type Disproportion
Arch Neurol 35:823-826, Eisler,T.,et al, 1978

Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978

Cranial Computerized Tomography & Marie's Ataxia
Arch Neurol 35:55, Aita,J.F., 1978

Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978

Dominant Spinopontine Atrophy
Arch Neurol 35:156, Pogacar,S.,et al, 1978

Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
Neurol 28:703, Coutinho,P.,et al, 1978

Nemaline (Rod) Myopathy:The Need for Histochemical Evaluation of Affected Families
Ann Neurol 4:37, Bender,A.N.,et al, 1978

Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 1978

Computerized Tomography & Auditory-evoked Potentials:Use in the Diagnosis of Olivopontocerebellar Degeneration
Arch Neurol 35:143, Gilroy,J.,et al, 1978

Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978

Diagnostic Significance of Myeloperoxidase Assay in Neuronal Ceroidlipofuscinoses (Batten-Vogt Syndrome)
Neurol 28:924-927, Pilz,H.,et al, 1978

Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978

Systemic Membrane Defect in the Proximal Muscular Dystrophies
NEJM 299:841-846, Pickard,N.A.,et al, 1978

Acute Measles Encephalitis in Children With Immunosuppression
Pediatr 59:232-239, Aicardi,J.,et al, 1977

X-linked Muscular Dystrophy
Ann Neurol 2:414, Furukawa,T.,et al, 1977

Chronic Hexosaminidase A & B Deficiency
et al. , Ann Neurol 2:156977., Goldie,W.D., 1977

Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977

Physostigmine in Familial Ataxias
Neurol 27:70, Kark,R.A.,et al, 1977

Spinocerebellar Ataxia & HLA Linkage:Risk Prediction by HLA Typing
NEJM 296:1138, Jackson,J.F.,et al, 1977

Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977

The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
Arch Neurol 34:408, Ringer,S.P.,et al, 1977

Rigid Spine Syndrome:A Type I Fiber Myopathy
Arch Neurol 34:119, Seay,A.R.,et al, 1977

Charcot-Marie-Tooth Disease Associated With"Essential Tremor"
Neurol Sciences 28:17-40, Salisachs,P.J., 1976

Neurotoxicity of Commonly Used Antineoplastic Agents
NEJM 291:75, 1271974., Weiss,H.,et al, 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

Tay-Sachs Disease-The Use of Tears for the Detection of Heterozygotes
NEJM 289:1072, Carmody,P.,et al, 1973

Drug Treatment of Convulsive Disorders
NEJM 286:464, 1972; 287:105972., Millichap,J.G., 1972

Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972

Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
Neurol 22:49, Nakano,K.K.,et al, 1972

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 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

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

Olivopontocerebellar Atrophies:A Review
Medicine 49:227, Konigsmark,B., 1970

Abnormal Head Size, In Neurology In Pediatrics
(Ed) , 1970 Year Book Med. Publishers, p. 61., Bray,P.F., 1970

Lower Motor & Primary Sensory Neuron Diseases with Peroneal Muscular Atrophy (II)
Arch Neurol 18:619, Dyck,P.,et al, 1968

Diseases of Muscles-Clinical Manifestations & Differential Diagnosis
The New Physic 263, 1967, Oct., Boshes,L., 1967

Amyotrphic Lateral Sclerosis
Arch Neurol 16:357, Hirano,A.,et al, 1967

Epilepsy in Children
Current Therapy, 1966, p. 574., Scholl,M.L., 1966

The Circle of Willis:Anatomical Variations
Vascular Diseases, J Angio Res Found 2:991965., Fisher,C.M., 1965



Showing articles 1400 to 1450 of 1456 << Previous Next >>