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Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]

Orphanet J Rare Dis
Ijaz A, Abbas S, Shabbir M, Badshah Y, Abid F, Afsar T, Razak S.   +6 more
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Pathophysiological Mechanisms in Glycogenosis Type II

, 2011
TOSCANO, Antonio, MUSUMECI, Olimpia
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Muscle glycogenosis

Journal of Inherited Metabolic Disease, 1990
SummaryThis review describes clinical, biochemical and genetic features of the four inborn errors affecting muscle glycogen breakdown, namely deficiencies of phosphorylase, phosphorylase kinase, amylo‐1,6‐glucosidase and acid α‐glucosidase. They are characterized by a wide spectrum of clinical manifestation, affecting age of onset, clinical features ...
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Glycogenosis

Acta Paediatrica, 1938
SUMMARYDescription of a case of glycogenosis in a boy barely one year old. The signs characteristic of this disease, especially enlargement of the liver and disturbance of carbohydrate metabolism, were present to a striking degree. In addition to the usual examinations in cases of glycogenosis liver puncture was done and provided valuable information ...
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Hepatorenal glycogenosis (type I glycogenosis) and carcinoma of the liver

The Journal of Pediatrics, 1969
The second reported example of malignant hepatoma developing in a patient with type I glycogen storage disease is presented. Details of the clinical course and of the ultrastructural and biochemical characteristics of the tumor are described.
F, Zangeneh, G A, Limbeck, B I, Brown, J R, Emch, M M, Arcasoy, V E, Goldenberg, V C, Kelley   +6 more
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