Northwestern University Feinberg School of Medicine

Department of Pediatrics

Genetics, Birth Defects, and Metabolism Publications

Below are listed selected publications by faculty members in the Division of Genetics, Birth Defects, and Metabolism in the Department of Pediatrics at Northwestern University Feinberg School of Medicine.  For a more complete list, please click on the faculty member’s name.

Brad Angle, MD
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
Angle B, Burton BK
Molecular genetics and metabolism 2008 Jan; 93(1):36-9
PMID: 17977044
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D
Genetics in medicine : official journal of the American College of Medical Genetics 2007 Feb; 9(2):108-16
PMID: 17304052
Developmental field defects: coming together of associations and sequences during blastogenesis.
Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G
American journal of medical genetics 2002 Jul 15; 110(4):320-3
PMID: 12116204
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review.
Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH, Fowlkes JL, Sanders LP, O'Brien JM, Carroll GS, Gunther WM, Morrow HG, Burghen GA, Ward JC
American journal of medical genetics 2000 Jan 17; 90(2):131-40
PMID: 10607952

Barbara Burton, MD
Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses.
Burton BK, Wiesman C, Paras A, Kim K, Katz R
Molecular genetics and metabolism 2009 Jul; 97(3):234-6
PMID: 19427803
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB
The Journal of pediatrics 2009 May; 154(5):700-7
PMID: 19261295
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
Angle B, Burton BK
Molecular genetics and metabolism 2008 Jan; 93(1):36-9
PMID: 17977044
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Burton BK, Grange DK, Milanowski A, Vockley G, Feillet F, Crombez EA, Abadie V, Harding CO, Cederbaum S, Dobbelaere D, Smith A, Dorenbaum A
Journal of inherited metabolic disease 2007 Oct; 30(5):700-7
PMID: 17846916

Joel Charrow, MD
Enzyme replacement therapy for Gaucher disease.
Charrow J
Expert opinion on biological therapy 2009 Jan; 9(1):121-31
PMID: 19063698
Fanconi-Bickel syndrome: Report of life history and successful pregnancy in an affected patient.
Pena L, Charrow J
American journal of medical genetics. Part A 2011 Jan 13; :
PMID: 21235015
Episodic myoglobinuria in a primary gamma-sarcoglycanopathy.
Pena L, Kim K, Charrow J
Neuromuscular disorders : NMD 2010 Mar 29; :
PMID: 20356742
Neurofibromatosis-1 in childhood.
Listernick R, Charrow J
Advances in dermatology 2004; 20:75-115
PMID: 15544197