J. Clarke

发表

CDG‐IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features

T. Hennet, M. Aebi, G. Matthijs, 2005, American journal of medical genetics. Part A.

Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents

R. Schiffmann, R. Brady, A. Mehta, 2007, Journal of clinical pharmacology.

Systolic Myocardial Mechanics in Patients with Anderson–Fabry Disease with and without Left Ventricular Hypertrophy and in Comparison to Nonobstructive Hypertrophic Cardiomyopathy

M. Vannan, H. Rakowski, M. Care, 2012, Echocardiography.

Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.

R. Schiffmann, T. Reimschisel, G. Pastores, 2010, The Journal of pediatrics.

Lethal Cardiac Tachyarrhythmia in a Patient with Neonatal Carnitine–Acylcarnitine Translocase Deficiency

E. Cutz, S. Olpin, J. Clarke, 2001, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.

H. Faghfoury, S. Blaser, S. Mercimek-Mahmutoglu, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Short‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

S. Dimauro, N. York, I. Tein, 1991, Annals of neurology.

Genotype‐phenotype pitfalls in Gaucher disease

L. Becker, J. Callahan, J. Clarke, 1994, Journal of clinical laboratory analysis.

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

P. K. Chakraborty, H. Moser, A. Moser, 2002, Human mutation.

Clinical and genetic aspects of trigonocephaly: A study of 25 cases

D. Chitayat, P. Chakraborty, A. Teebi, 2002, American journal of medical genetics. Part A.

W474C amino acid substitution affects early processing of the α‐subunit of β‐hexosaminidase A and is associated with subacute GM2 gangliosidosis

Gregory M Lee, E. Petroulakis, J. Clarke, 1998 .

Long-term Adaptive Functioning Outcomes of Children With Inherited Metabolic and Genetic Diseases Treated With Hematopoietic Stem Cell Transplantation in a Single Large Pediatric Center: Parents' Perspective

T. Schechter, J. Raiman, J. Doyle, 2011, Journal of pediatric hematology/oncology.

Multiple Sulfatase Deficiency With Early Severe Retinal Degeneration

J. R. Buncic, M. Harbord, M. Skomorowski, 1991, Journal of child neurology.

Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): clinical and pathological correlation.

W. Williams, S. Siu, G. Oudit, 2007, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline‐normal PDH complex activity

B. Robinson, O. Elpeleg, J. Cameron, 2006, American journal of medical genetics. Part A.

Ornithine Transcarbamylase Deficiency in Females: An Often Overlooked Cause of Treatable Encephalopathy

S. Blaser, J. Clarke, Clair Pridmore, 1995, Journal of child neurology.

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA

R. Mcinnes, S. Blaser, B. Robinson, 2007, American journal of medical genetics. Part A.

An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study

D. Zafeiriou, J. Celli, J. D. den Dunnen, 2010, Human mutation.

Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.

Rosemary M. L. Tan, M. Nowaczyk, L. Fisher, 1998, Metabolism: clinical and experimental.

Copper-histidine therapy for Menkes disease.

J. Clarke, B. Sarkar, J. Clarke, 1993, The Journal of pediatrics.

Initial report from the Hunter Outcome Survey

R. Giugliani, J. E. Wraith, J. Muenzer, 2008, Genetics in Medicine.

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

J. Christodoulou, B. Robinson, R. Petrova-Benedict, 1992, American journal of human genetics.

Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis

M. S. Salman, G. Midroni, J. Clarke, 2001, Journal of Inherited Metabolic Disease.

Evolution of the neuroimaging changes in fucosidosis type II

S. Blaser, J. Clarke, D. Terespolsky, 1996, Journal of Inherited Metabolic Disease.

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

C. P. Morris, R. Richards, G. Sutherland, 1992, American journal of human genetics.

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

F. Bamforth, P. Chakraborty, J. Callahan, 2007, Molecular genetics and metabolism.

Barth syndrome: clinical observations and genetic linkage studies.

R. Mcinnes, V. Jay, J. Christodoulou, 1994, American journal of medical genetics.

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

S. Schuster, A. Lamhonwah, J. Stirling, 1988, Nature.

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.

S. Schuster, A. Feigenbaum, M. Natowicz, 1990, The New England journal of medicine.

Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders.

J. R. Buncic, E. Harvey, S. M. Lewis, 1994, American journal of medical genetics.

"Hypotyrosinemia" in phenylketonuria.

A. Hanley, D. Lehotay, J. Clarke, 2000, Molecular genetics and metabolism.

Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy.

P. Chang, J. Clarke, M. Skomorowski, 1989, American journal of medical genetics.

A mutation common in non‐jewish Tay–Sachs disease: Frequency and RNA studies

J. Zieleński, M. Natowicz, J. Clarke, 1992, Human mutation.

Ornithine transcarbamylase deficiency presenting with strokelike episodes.

R. Mcinnes, J. Christodoulou, J. Clarke, 1993, The Journal of pediatrics.

Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature

L. Sung, J. Doyle, A. Gassas, 2003, Bone Marrow Transplantation.