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Filter Applied: enzyme,defect (Click to remove)

Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Fatal Infantile Form of Muscle Phosphorylase Deficiency
Neurol 28:1124-1129, DiMauro,S.,et al, 1978

The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977

Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990

Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014

Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 971, Ropper, A.H.,et al, 2014

Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
Lancet 374:1986-1996, 1950, Mehta,A.,et al, 2009

Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006

Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004

Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002

Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Late Onset Globoid Cell Leukodystrophy
JNNP 54:1011-1012, Grewal,R.P.,et al, 1991

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988

Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988

Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986

Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
Lancet 2:772-774, Taylor,R.M.,et al, 1986

GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985

Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984

Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980

Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979

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

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



Showing articles 0 to 31 of 31