Infantile Mitochondrial Disease

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منابع مشابه

Infantile Blount disease

Blount disease is an acquired growth disorder of the medial aspect of the proximal tibial physis, epiphysis and metaphysis. Infantile Blount disease present with bowing and length discrepancy in the lower limbs. The deformed medial tibial metaphysis represent as nontender bony protuberance can be palpated along the medial aspect of the proximal tibia. Here, we present an 18-month-old boy presen...

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Infantile Refsum disease.

Disorders attributable to peroxisomal dysfunction are well recognized on the basis of their clinical and biochemical characteristics. These observations have resulted in a preliminary classification that recognizes two major groups of disorders, both of which are genetically determined. Group 1 consists of the generalized peroxisomal disorders that frequently cause signs and symptoms in the new...

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Infantile hookworm disease.

Hookworm infection is common but has rarely been reported in neonates or infants. Two cases of hookworm infestation in early infancy are described. The infants presented with malena, severe pallor, lethargy and failure to gain weight. Initial stool examination was non-contributory and diagnosis was made by upper gastrointestinal endoscopy.

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infantile-onset pompe disease

how to cite this article: ashrafi mr, tavasoli ar. infantile-onset pompe disease. iran j child neurol autumn 2012; 6:4(suppl. 1):7-9. pls see pdf.   refe r ences: 1. kishnani ps, steiner rd. pompe disease diagnosis and management guidelines. american j med genetic. 2006 .vol; 8; no5. 2. case se, beckemyer aa. infantile pompe disease on ert-updateonclinicalpresentation,musculoskeletal management...

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ژورنال

عنوان ژورنال: Pediatric Neurology Briefs

سال: 1989

ISSN: 2166-6482,1043-3155

DOI: 10.15844/pedneurbriefs-3-9-9