1972
DOI: 10.1016/s0022-3476(72)80144-6
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Glycogenosis IV: A new cause of infantile hypotonia

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Cited by 54 publications
(34 citation statements)
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“…The liver is usually the earliest casualty, but there can be an array of clinical presentations depending on the dominant organ system affected. Occasional cases of presenting cardiomyopathy [5,12,14,27], neurological syndromes [9,21] or musculoskeletal manifestations [11,12,35] have been reported. In these unusual patients, the clinical onset frequently is later than in the typical case of type IV disease, and death most often results from myocardial causes.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…The liver is usually the earliest casualty, but there can be an array of clinical presentations depending on the dominant organ system affected. Occasional cases of presenting cardiomyopathy [5,12,14,27], neurological syndromes [9,21] or musculoskeletal manifestations [11,12,35] have been reported. In these unusual patients, the clinical onset frequently is later than in the typical case of type IV disease, and death most often results from myocardial causes.…”
Section: Discussionmentioning
confidence: 99%
“…Fatal hepatic complications usually occur by the age of 2-4 years, but in exceptional cases involvement in other organ systems may be prominent mortality factors [4,5,12,14,27,35]. Liver transplantation for this disease was first attempted in 1972, but the recipient died 110 days later after uncontrolled rejection of his first liver and attempted retransplantation [31].…”
Section: Introductionmentioning
confidence: 99%
“…The usual clinical consequence is fatal cirrhosis within 1 or 2 yr after birth However, patients who do not die from liver disease are subject to lethal cardiomyopathy or neuromuscular syndromes (52)(53)(54)(55). Because the enzyme deficiency and consequent amylopectin deposition affect all cells, not just those in the liver, it was surprising to many experts in metabolism when absorption occurred of the amylopectin from the heart and other extrahepatic tissues of five patients with GSD IV 1.3 to 6 yr after liver replacement ( Fig.…”
Section: Direct Evidence Of Systemicmentioning
confidence: 99%
“…The usual clinical consequence is fatal cirrhosis within 1 or 2 yr after birth_ However, patients who do not die from liver disease are subject to lethal cardiomyopathy or neuromuscular syndromes (52)(53)(54)(55). Because the enzyme deficiency and consequent amylopectin deposition affect all cells, not just those in the liver, it was surprising to many experts in metabolism when absorption occurred of the amylopectin from the heart and other extrahepatic tissues of five patients with GSD IV 1.3 to 6 yr after liver replacement (Fig_ 10) (56).…”
Section: Direct Evidence Of Systemic Chimerism From Thementioning
confidence: 99%