Search

Your search keyword '"Robert L. Conway"' showing total 26 results

Search Constraints

Start Over You searched for: Author "Robert L. Conway" Remove constraint Author: "Robert L. Conway"
26 results on '"Robert L. Conway"'

Search Results

1. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders

2. A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

3. Thinking outside 'The Box': Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr

4. Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan

6. Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening

8. Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings

9. Risk Factors for Dysphagia Following a Cervical Fusion in a Trauma Population

10. Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia

11. Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years

12. Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review

13. Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene

14. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

15. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

16. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

17. An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions

18. Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly–cutis marmorata telangiectatica congenita

19. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip

20. Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

21. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

22. Neuroimaging Findings in Macrocephaly–Capillary Malformation: A Longitudinal Study of 17 Patients

23. A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: chance association or a case for pleiotropy?

24. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

25. 114 A CASE OF AUTOSOMAL RECESSIVE INFANTILE OSTEOPETROSIS DUE TO MUTATION IN TCIRG1 PRESENTING WITH MULTIPLE CONGENITAL ANOMALIES

26. 132 THE FEMALE PHENOTYPE OF OTO-PALATO-DIGITAL SYNDROME TYPE 2— A REVIEW AND REPORT OF POSSIBLE NEW FEATURES

Catalog

Books, media, physical & digital resources