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Showing articles 0 to 23 of 23

Filter Applied: enzyme,defect (Click to remove)

Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023

Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004

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

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

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

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

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

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

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

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

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Inborn Errors of Urea Synthesis
Ann Neurol 35:133-141, Batshaw,M.L., 1994

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987

A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
Ann Neurol 21:230-231, 240-2491987., Moser,A.B.,et al, 1987

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

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

Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985

Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis
NEJM 310:1630-1634, Brushlow,S.W.,et al, 1984



Showing articles 0 to 23 of 23