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Glycogen Storage Disease Type VI

Known as: Hepatic phosphorylase deficiency, Glycogen Storage Disease Type VI [Disease/Finding], PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER 
An autosomal recessive sub-type of glycogen storage disease caused by mutation(s) in the PYGL gene, encoding glycogen phosphorylase, liver form. The… 
National Institutes of Health

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Related topics

13 relations
Autosomal recessive inheritanceHypoglycemiaIn BloodMicrobiological

Broader (1)

Glycogen Storage Disease

Papers overview

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2006
2006
Language impairments in autism: evidence against mind-blindness
Introduction Autism is a developmental disorder which causes severe cognitive and social deficits and affects four in every ten… 
2005
2005
Remission of Recalcitrant Epidermolysis Bullosa Acquisita (EBA) with Colchicine Monotherapy
A 42‐year‐old woman with widespread recalcitrant epidermolysis bullosa acquisita (EBA) responded well to colchicine monotherapy… 
Review
1998
Review
1998
Cutaneous ulcers of refractory adult dermatomyositis responsive to intravenous immunoglobulin.
We report the case of a woman from the Bahamas who presented with many of the classic manifestations of dermatomyositis. She… 
1990
1990
Acquired ichthyosis in a patient with systemic lupus erythematosus.
To the Editor.— Skin lesions occur in up to 85% of patients with systemic lupus erythematosus (SLE). The most common lesions… 
1987
1987
Central neurogenic hyperventilation in a patient with medulloblastoma.
Central neurogenic hyperventilation is a rare but important cause of the frequently observed phenomenon of hyperventilation. Its… 
1978
1978
Pseudoxanthoma elasticum with transepidermal elimination.
Pseudoxanthoma elasticum (PXE) with transepidermal elimination was observed in a patient and diagnosed histologically in a single… 
1978
1978
Observations on the evolution of idiopathic rapidly progressive glomerulonephritis.
Distinctive deposits of C3, C5 and properdin were identified in the minimally proliferative glomerular lesions of a patient with… 
1975
1975
Prolonged Q-T interval syndrome. Successful treatment with combined ventricular pacing and propanolol.
A case of the sporadic variety of the prolonged Q-T interval syndrome without deafness is presented. The patient is unusual… 
Highly Cited
1974
Highly Cited
1974
Clinical Diagnosis of Vaginal Adenosis
Sixty-three patients whose mothers took diethylstilbestrol in the first trimester of pregnancy were studied colposcopically… 
1969
1969
A mathematical analysis of the growth and spread of breast cancer.
The physician sees the breast cancer patient only after her disease has had a complex history of growth and possible spread. The…