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Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

Molecular genetics and metabolism, 2016-11, Vol.119 (3), p.223-231

2016

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The contribution of mitochondria to common disorders

Molecular Genetics and Metabolism, 2003-09, Vol.80 (1), p.11-26

Enns, Gregory M

2003

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Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

Pediatrics (Evanston), 2004-08, Vol.114 (2), p.451

2004

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Management of methylmalonic acidaemia by combined liver–kidney transplantation

Journal of inherited metabolic disease, 2005-08, Vol.28 (4), p.517-524

2005

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Postpartum “Psychosis” in Mild Argininosuccinate Synthetase Deficiency

Obstetrics and gynecology (New York. 1953), 2005-05, Vol.105 (5, Part 2 Suppl), p.1244-1246

2005

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Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load

Journal of medical genetics, 2003-11, Vol.40 (11), p.e125-125

2003

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Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

Clinical genetics, 2005-10, Vol.68 (4), p.337-348

2005

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Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function

Biological chemistry, 2005-04, Vol.386 (4), p.319-324

2005

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Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion

American journal of medical genetics, 2003-11, Vol.123A (1), p.72-78

2003

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Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

The Journal of pediatrics, 2002-11, Vol.141 (5), p.695-700

2002

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Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

The Journal of pediatrics, 2000-02, Vol.136 (2), p.251-254

2000

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Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

Journal of inherited metabolic disease, 2004-01, Vol.27 (4), p.513-522

2004

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Early Neonatal Diagnosis of Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies

Molecular genetics and metabolism, 2002-02, Vol.75 (2), p.120-127

2002

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Congenital disorder of glycosylation Ic in patients of Indian origin

Molecular genetics and metabolism, 2003-07, Vol.79 (3), p.221-228

2003

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Mild developmental delay in terminal chromosome 6p deletion

American journal of medical genetics, 2004-08, Vol.129A (2), p.201-205

2004

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Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

Journal of inherited metabolic disease, 1999-06, Vol.22 (5), p.599-607

1999

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Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function

Biological chemistry, 2005-10, Vol.386 (10), p.1075-1075

2005

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Functional Analysis of Novel Mutations in a Congenital Disorder of Glycosylation Ia Patient with Mixed Asian Ancestry

Molecular genetics and metabolism, 2001-05, Vol.73 (1), p.71-76

2001

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Clinical course and biochemistry of sialuria

Journal of inherited metabolic disease, 2001-06, Vol.24 (3), p.328-336

2001

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Molecular correlations in phenylketonuria : Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population

Pediatric research, 1999-11, Vol.46 (5), p.594-602

1999

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Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review

American journal of medical genetics, 1998-09, Vol.79 (3), p.215-225

1998

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Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

American journal of medical genetics, 1998-12, Vol.80 (4), p.362-367

1998

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Gastrointestinal tract anomalies in velocardiofacial syndrome

American journal of medical genetics, 1999-06, Vol.84 (4), p.382-383

1999

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In the hands of the beholder: Wearing a COVID-19 mask is associated with its attractiveness

Quarterly journal of experimental psychology (2006), 2022-04, Vol.75 (4), p.598-615

2022

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Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

The contribution of mitochondria to common disorders

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

Management of methylmalonic acidaemia by combined liver–kidney transplantation

Postpartum “Psychosis” in Mild Argininosuccinate Synthetase Deficiency

Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function

Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

Early Neonatal Diagnosis of Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies

Congenital disorder of glycosylation Ic in patients of Indian origin

Mild developmental delay in terminal chromosome 6p deletion

Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function

Functional Analysis of Novel Mutations in a Congenital Disorder of Glycosylation Ia Patient with Mixed Asian Ancestry

Clinical course and biochemistry of sialuria

Molecular correlations in phenylketonuria : Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population

Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

Gastrointestinal tract anomalies in velocardiofacial syndrome

In the hands of the beholder: Wearing a COVID-19 mask is associated with its attractiveness

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