C. Freehauf

发表

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.

J. Chou, H. Levy, M. Chamberlin, 2000, American journal of human genetics.

Management of a patient with holocarboxylase synthetase deficiency.

J. V. Van Hove, D. Mock, B. Barshop, 2008, Molecular genetics and metabolism.

Low bone mineral density is a common finding in patients with homocystinuria.

P. Kaplan, M. Levine, C. Ficicioglu, 2016, Molecular genetics and metabolism.

Evaluation of the Efficacy and Effectiveness of Metabolic University: A Didactic Training Program for the Metabolic Clinician

Janet A. Thomas, C. Freehauf, L. Bernstein, 2011 .

Network Phenylketonuria Conference: An Effective Tool for Facilitating Adherence to Diet Therapy in Individuals With Phenylketonuria

Janet A. Thomas, C. Freehauf, Dexiang Gao, 2009 .

Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures.

E. McCabe, S. Goodman, C. Freehauf, 1984, American journal of human genetics.

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

H. Blom, Y. Chien, W. Hwu, 2015, Orphanet Journal of Rare Diseases.

Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.

Janet A. Thomas, C. Freehauf, R. Allen, 2017, JIMD reports.

Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia

J. Ward, B. Wolf, C. Freehauf, 2003, Journal of Inherited Metabolic Disease.

Introduction to Genetics

C. Freehauf, 2015 .

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome

S. Dimauro, L. Salviati, S. Sacconi, 2004, American journal of medical genetics. Part A.

Natural history of the recombinant (8) syndrome.

A. Robinson, K. Prescott, C. Clericuzio, 1993, American journal of medical genetics.

Acute nutrition management in the prevention of metabolic illness: a practical approach with glucose polymers.

J. V. Van Hove, C. Freehauf, S. Myers, 2009, Molecular genetics and metabolism.

Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.

G. Brodsky, J. V. Van Hove, D. Graham, 2011, Molecular genetics and metabolism.

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial

U. Christians, K. Moreau, L. Pyle, 2019, Journal of inherited metabolic disease.

Growth Hormone Deficiency Associated with Methylmalonic Acidemia

C. Freehauf, M. Al-Owain, M. Kappy, 2004, Journal of pediatric endocrinology & metabolism : JPEM.

Impact of geographic access to care on compliance and metabolic control in phenylketonuria.

J. V. Van Hove, C. Freehauf, Dexiang Gao, 2013, Molecular genetics and metabolism.

Role of Electron Microscopy in the Diagnosis of Mitochondrial Cytopathies

C. Freehauf, R. Tyson, G. Mierau, 2004, Pediatric and Developmental Pathology.

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene

M. Lovell, J. V. Van Hove, G. Vladutiu, 2008, European Journal of Pediatrics.

Methotrexate loaded erythrocyte carriers optimizing their formation their characterization and their pharmacological efficacy in treating hepatoma 129 ascites tumors in mice

C. M. Williams, C. Kruse, C. Freehauf, 1987 .