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22 results on '"James D. Weisfeld-Adams"'

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1. Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

2. Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance

3. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

4. The Abyss

5. Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: A safe, inexpensive, widely accessible, and efficacious strategy

6. Subject Index Vol. 43, 2007

7. Complex Syndactyly and Atypical Ectrodactyly in a Child with a Mosaic Karyotype Involving Trisomy 21 and Partial Duplication of Chromosome 21

8. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

9. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

10. ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.

11. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.

12. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

13. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

14. Early prediction of phenotypic severity in Citrullinemia Type 1.

16. Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.

17. Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children's Cancer Group high-grade glioma study CCG-945.

18. Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.

19. Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease.

20. Three Sisters with Chiari I Malformation with and without Associated Syringomyelia.

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