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Differential
(Click to cross reference)
abdominal muscle paralysis
acid maltase deficiency
acid maltase deficiency, adult
activities of daily living scale
alpha glucosidase
aneurysm
anterior horn cell disease
aspartate aminotransferase
asymptomatic
calf hypertrophy
cardiomegaly
cardiomyopathy
congestive heart failure
consanguinity
creatine phosphokinase(CPK)elevated
cultured skin fibroblasts
delay in diagnosis
developmental retardation
diaphragmatic paralysis
difficulty climbing stairs
distal muscle atrophy
distal muscle weakness
dyspnea
efficacy
electrocardiogram, abnormal
electromyogram
electron microscopy
enzyme treatment
enzyme, defect
enzyme, muscle disease
exercise
exercise intolerance
facial weakness
falling
familial
fatigue
fibrillations
floppy infant
gene
gene mutation
gene therapy
genetic diagnosis, prenatal
genetic neurologic disorders
genetic testing
glycogen debranching enzyme deficiency
glycogen storage disease
hepatomegaly
hip flexor weakness
histochemistry of muscle
hypoglycemia
hypotonia
hypotonia, infants
hypoxia
imbalance
inborn errors of metabolism, screening
ischemic exercise test
leg weakness, bilateral
low back pain
lysosomal storage disease
lysosomes, abnoral
McArdle's disease
misdiagnosis
mortality
MRI, muscle
muscle atrophy, progressive
muscle biopsy
muscle cramp
muscle hypertrophy
muscle pain
muscle phosphorylase deficiency
muscle stiffness
muscle strength, testing
muscle wasting, diffuse
muscle weakness
muscle weakness, insidious onset of
muscle weakness, proximal
myoglobinuria
myopathy
myopathy, distal, vacuolar
myopathy, genetic
myopathy, metabolic
myopathy, necrotizing
myopathy, vacuolar
myotonic discharges
neck weakness
neurologic disease
neurologic disease, diagnoses of
orthopnea
pain, back
paraspinal muscle
paraspinal muscle weakness
PAS positive
patient in waiting
phosphorylase b kinase deficiency
Pompe's disease of glycogen storage
preclinical
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
prognosis
pseudomyotonia
pulmonary function tests
pulmonary hypertension
renal failure
respiratory failure
review article
screening
second wind phenomena
short stature
subarachnoid hemorrhage
tongue, enlarged
tongue, weakness
treatment of neurologic disorder
urine, dark
vital capacity
walking, difficulty with
weakness
weakness, progressive
weakness, proximal
winging of scapula
Showing articles 50 to 100 of 1576 << Previous Next >>

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

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

Spontaneous "Second Wind" and Glucose-Induced Second "Second Wind" in McArdle Disease
Arch Neurol 59:1395-1402, Haller,R.G.&Vissing,J., 2002

Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001

Acute Compartment Syndrome After Forearm Ischemic Work Test in a Patient with McArdle's Disease
Neurol 56:1779-1780, Lindner,A.,et al, 2001

Clumsiness, Confusion, Coma, and Valproate
Lancet 353:1408, Ellaway,C.J.,et al, 1999

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

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

Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997

Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997

Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996

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

Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995

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

Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995

Practice Parameter for Diagnosis and Evaluation of Dementia (Summary Statement) Alter
M. , et al, Neurol 44:2203-220694., , 1994

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

Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
Ann Int Med 120:216-217, Wong,L-J.C.,et al, 1994

Brain Imaging in Late-Onset CM2 Gangliosidosis
Neurol 43:2055-2058, Streifler,J.Y.,et al, 1993

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993

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

McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992

Psychiatric Disturbances in Metachromatic Leukodystrophy
Arch Neurol 49:401-406, Hyde,T.M.,et al, 1992

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

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

Progressive Neuropathy & Recurrent Myoglobinuria in a Child with Long-chain 3-Hydroxyacylcoenzyme A Dehydrogenase Defic
J Pediatr 118:744-746, Dionisi,C.,et al, 1991

Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
NEJM 324:364-369, 4111991., Haller,R.G.&Lewis,S.F., 1991

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

Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990

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

Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990

Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989

Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
Neurol 39:741-742, Friedman,J.H.,et al, 1989

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

McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988

Inborn Errors of Metabolism in Children Referred with Reye's Syndrome, A Changing Pattern
JAMA 260:3167-3170, 3178-31801988., Rowe,P.C.,et al, 1988

Hypoparathyroidism
Cecil Textbook of Medicine 18th Ed, W B Saunders Co, Phila, p149688., Arnaud,C.D., 1988

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

Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987

Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986

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

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

Hallervorden-Spatz Disease:Cysteine Accumulation & Cysteine Dioxygenase Deficiency in the Globus Palladus
Ann Neurol 18:482-489, Perry,T.L.,et al, 1985

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

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

McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985

Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984



Showing articles 50 to 100 of 1576 << Previous Next >>