Leukodystrophies (LD) and lysosomal storage disorders (LSD) have generated increased interest recently as targets for newborn screening programs. Accurate epidemiological benchmarks are needed in the U.S. Age-specific mortality rates were estimated for Krabbe disease (KD) and nine related disorders. U.S. mortality records with E75.2 cause of death code during 1999-2004 were collected from 11 op...

4. Özsoylu S, Allahverdi H, Laleli Y, Pirnar A. Platelet survival in childhood idiopathic thrombocytopenic purpura in remission. J Pediatr 1976;89:388-390. 5. Özsoylu Ş, Karabent A, Irken G, Tuncer M. Antiplatelet antibody in childhood idiopathic thrombocytopenic purpura. Am J Hematol 1991;36:82-85. 6. Özsoylu Ş, Ertürk G. Oral megadose methylprednisolone for acute childhood idiopathic thromboc...

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...

Nephrotic syndrome in patients with Gaucher disease is rare; most of the few reported cases have had a well-defined glomerulopathy often with Gaucher cells in the glomeruli. We report the case of a 54-year-old woman with Gaucher disease, who had splenectomy at age 25, preeclampsia with renal biopsy disclosing only endotheliosis at age 32, and improvement of proteinuria and reappearance of heavy...

The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder and enzyme deficiency were directly related. This paper details the clinical and molecular characte...

The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early neurodegeneration. Gaucher disease patients (n = 30), heterozygous glucocerebrosidase mutation carriers (n = 30), and mutation-negative controls matched by age, sex, and ethnicity (n = 30) were recruited. Assessment was done for olfactory ...

Caffey’s disease was characterized by a triad of symptoms, irritability, soft tissue swelling, and underlying cortical bone thickening. It mostly occurs before the first 5 months life in infancy. The knowledge this pathology essential as it masquerades wide range diseases including acute osteomyelitis, tumors, trauma, battered baby syndrome (child abuse), hypervitaminosis a, scurvy, infantile m...

BACKGROUND Gaucher disease is a common glycolipid storage disease, caused by a deficiency of lysosomal beta-glucosidase (glucocerebrosidase). Alglucerase is a form of glucocerebrosidase enriched with terminal mannose moieties, so as to "target" the preparation to the high-affinity macrophage receptor in patients with Gaucher disease. Our earlier in vitro studies indicated that alglucerase was b...

An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed c...

Glucocerebrosidase was purified 26,000-fold from spleens from normal humans and from patients with Gaucher disease (Gaucher spleens). The specific activities of the purified normal and mutant enzymes with glucocerebroside as substrate were 8.5 X 10(5) and 5.4 X 10(4) nmol/mg of protein per hr, respectively. The ratio of enzymatic activities was constant throughout the isolation procedure. The t...