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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
aminoacidopathies
aneurysm
anterior horn cell disease
aspartate aminotransferase
asymptomatic
bright tongue sign
bulbar palsy
calf hypertrophy
cardiomegaly
cardiomyopathy
children
chromosome 11
Clinical Pathologic Conference(C.P.C.)
compartment syndrome
congenital myopathy
congestive heart failure
consanguinity
creatine phosphokinase(CPK)elevated
cultured skin fibroblasts
delay in diagnosis
developmental retardation
diaphragmatic paralysis
differential diagnosis
difficulty climbing stairs
distal muscle atrophy
distal muscle weakness
dyspnea
efficacy
electrocardiogram, abnormal
electromyogram
electron microscopy
encephalopathy
encephalopathy, anoxic
encephalopathy, neonatal
enzyme treatment
enzyme, defect
enzyme, muscle disease
exercise
exercise intolerance
exercise-related muscle strength increase
facial weakness
falling
familial
fatigue
fibrillations
floppy infant
gaze palsy, vertical
gene
gene mutation
gene therapy
genetic diagnosis, prenatal
genetic neurologic disorders
genetic testing
glycogen debranching enzyme deficiency
glycogen storage disease
Gowers maneuver
hepatomegaly
hip flexor weakness
histochemistry of muscle
hypoglycemia
hypotonia
hypotonia, infants
hypoxia
hypoxic encephalopathy
iatrogenic neurologic disorders
imbalance
inborn errors of metabolism, screening
ischemic exercise test
leg weakness, bilateral
leukocytes
lipid storage disorder of CNS
lipid storage myopathy
low back pain
lysosomal storage disease
lysosomes, abnoral
McArdle's disease
McArdle's disease, adult onset
misdiagnosis
molecular genetics
mortality
MRI
MRI, abnormal
MRI, muscle
mucopolysaccharidoses
muscle atrophy, progressive
muscle atrophy, static
muscle biopsy
muscle cramp
muscle hypertrophy
muscle pain
muscle phosphofructokinase deficiency
muscle phosphorylase deficiency
muscle stiffness
muscle strength, testing
muscle wasting, diffuse
muscle weakness
muscle weakness, insidious onset of
muscle weakness, proximal
muscular dystrophy
myoglobinuria
myopathy
myopathy, distal, vacuolar
myopathy, genetic
myopathy, metabolic
myopathy, necrotizing
myopathy, vacuolar
myositis
myotonia congenita
myotonic discharges
neck weakness
nerve biopsy
neurologic disease
neurologic disease, diagnoses of
neurologic evaluation
newborn, evaluation of
Niemann-Pick disease
orthopnea
pain
pain, arm
pain, back
paraspinal muscle
paraspinal muscle weakness
PAS positive
patient in waiting
phosphorylase b kinase deficiency
polymerase chain reaction
Pompe's disease of glycogen storage
preclinical
prenatal diagnosis by amniocentesis
prevention of neurologic disorders
prognosis
proximal muscle atrophy
pseudomyotonia
pulmonary function tests
pulmonary hypertension
renal failure
respiratory failure
review article
RFLPs
screening
second wind phenomena
seizure
short stature
sphingolipodoses
spinal muscular atrophy
spinocerebellar degeneration
subarachnoid hemorrhage
tongue, enlarged
tongue, weakness
treatment of neurologic disorder
urine, dark
vital capacity
walking, difficulty with
weakness
weakness, generalized
weakness, progressive
weakness, proximal
winging of scapula
workup
Showing articles 0 to 50 of 148 Next >>

Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023

Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017

Bright Tongue Sign in Pompe Disease
Neurol 86:401, Karam, C., 2016

A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016

"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981

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

The Ultrastructure of the Sural Nerve in Pompe's Disease
Ann Neurol 2:111, Goebel,H.H.,et al, 1977

Progressive Paresis of Vertical Gaze in Lipid Storage Disease
Neurol 21:896, Grover,W., 1971

A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022

Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021

A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020

Spinal Cord Involvement in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
JAMA Neurol 77:1169-1170, Li, S.,et al, 2020

Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019

Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019

Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017

Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
Neurol 87:579-584, Berkovic, S.F.,et al, 2016

Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016

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

Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 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

Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 973, Ropper, A.H.,et al, 2014

Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013

Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011

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



Showing articles 0 to 50 of 148 Next >>