Newborn screening and renal disease: where we have been; where we are now; where we are going.
Pediatric nephrology (Berlin, Germany)
, 2011 Sep 27
Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate.
Molecular genetics and metabolism
, 2011 Aug: 103(4)323-9
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
Molecular genetics and metabolism
, 2010: 100 Suppl 1S97-105
Establishing a consortium for the study of rare diseases:
The Urea Cycle Disorders Consortium.
Molecular genetics and
metabolism
, 2010: S97-105
A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
Journal of inherited metabolic disease
, 2009 Jul 29
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
Molecular therapy : the journal of the American Society of Gene Therapy
, 2009 Mar: 17(3)425-9
Biochemical correction of very long-chain acyl-CoA
dehydrogenase deficiency following adeno-associated virus gene
therapy.
Molecular therapy : the journal of the American
Society of Gene Therapy
, 2009 Mar: 425-9
Chapter 26 Inherited Metabolic Disorders
Oxford American Handbood of Pediatrics
, 2009: Oxford University Press; Oxford
Chapter 26 Inherited Metabolic Disorders
Oxford American Handbook of Pediatrics
, 2009
Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly.
American journal of medical genetics. Part A
, 2008 Apr 15: 146A(8)1055-8
Delineation of the cryptic 1qter deletion phenotype.
American journal of medical genetics. Part A
, 2007 Mar 15: 143(6)599-603
Delineation of the cryptic 1qter deletion
phenotype.
American journal of medical genetics. Part
A
, 2007 Mar 15: 599-603
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery.
Archives of neurology
, 2007 Jan: 64(1)126-8
Ornithine transcarbamylase deficiency presenting as
encephalopathy during adulthood following bariatric
surgery.
Archives of neurology
, 2007 Jan: 126-8
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Molecular genetics and metabolism
, 2006 Aug: 88(4)351-8
Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.
American journal of medical genetics. Part A
, 2006 Aug 1: 140(15)1669-72
In vitro characterization and in vivo expression of human
very-long chain acyl-CoA dehydrogenase.
Molecular genetics and
metabolism
, 2006 Aug: 351-8
Extensive acrochordons and pancreatic islet-cell tumors in
tuberous sclerosis associated with TSC2 mutations.
American journal of medical genetics. Part
A
, 2006 Aug 1: 1669-72
14q32.3 deletion syndrome with autism.
American journal of medical genetics. Part
A
, 2005 Feb 15: 99-100
Expression of cholera toxin B subunit oligomers in transgenic potato plants.
Transgenic research
, 1997 Nov: 6(6)403-13