Janice M. Fletcher
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View article: Managing Arrhythmias in Cardiogenic Shock: Insights Into Milrinone and Dobutamine Therapy
Managing Arrhythmias in Cardiogenic Shock: Insights Into Milrinone and Dobutamine Therapy Open
View article: The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses Open
View article: Table of Contents
Table of Contents Open
View article: Lysosomal Enzyme activity: Establishing Reference Intervals from Patient Data
Lysosomal Enzyme activity: Establishing Reference Intervals from Patient Data Open
Objectives To develop reference intervals for leukocyte lysosomal enzymology. Design Standards-based establishment of reference intervals by analysis of 7851 for 17 assays of 15 lysosomal enzymes in leukocyte and plasma (January 1985 throu…
View article: Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services Open
Background Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. Aims Assess clinical outcomes and changes in management af…
View article: Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort Open
View article: The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses Open
Purpose Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular diagnosis. The Australian Genomics Mitochondrial flagship, comprising clinicians,…
View article: Deleterious variants in<i>CRLS1</i>lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
Deleterious variants in<i>CRLS1</i>lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease Open
Mitochondrial diseases are a group of inherited diseases with highly varied and complex clinical presentations. Here, we report four individuals, including two siblings, affected by a progressive mitochondrial encephalopathy with biallelic…
View article: Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning Open
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enz…
View article: Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus Open
View article: Recent Research Advances in Biology Vol. 4
Recent Research Advances in Biology Vol. 4 Open
View article: Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy
Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy Open
Fabry disease (FD) results from a deficiency in the exoglycohydrolase, α-galactosidase A (AGA), an enzyme required for the sequential degradation of glycosphingolipids, which consequently accumulate in the lysosomes of affected cells. An X…
View article: Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> Open
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and…
View article: Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus Open
View article: Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type <scp>IVA</scp>
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type <span>IVA</span> Open
Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme, N ‐acetylgalactosamine 6‐sulphatase (GALNS). Consequently, partially degraded GAG, cho…
View article: Clinical implications of discordant massarray and sanger sequencing results in cystic fibrosis newborn screening
Clinical implications of discordant massarray and sanger sequencing results in cystic fibrosis newborn screening Open
View article: Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence Open
CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethio…
View article: 071 Advanced Cardiac Imaging Confirms Pathology in Late-Onset Anderson Fabry Disease
071 Advanced Cardiac Imaging Confirms Pathology in Late-Onset Anderson Fabry Disease Open
View article: Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 Open
View article: Faculty Opinions recommendation of The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Faculty Opinions recommendation of The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers. Open
Type I disorders of glycosylation (CDG), the most frequent of which is phosphomannomutase 2 (PMM2-CDG), are a group of diseases causing the incomplete N-glycosylation of proteins.PMM2-CDG is an autosomal recessive disease with a large phen…
View article: Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses
Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses Open
View article: AB117. Rearranging workflow to improve turn-around time for genetic testing: doing more with less
AB117. Rearranging workflow to improve turn-around time for genetic testing: doing more with less Open
Background: Demand for genetic testing continues to rise. In an environment of cost containment, the four physically separate laboratories that offer molecular genetic testing in our service continue to see an increase in test requests of …
View article: Identification of Atypical Fabry Disease in an Australian Cardiac Population
Identification of Atypical Fabry Disease in an Australian Cardiac Population Open
View article: Interruption of enzyme replacement therapy in Gaucher disease
Interruption of enzyme replacement therapy in Gaucher disease Open
In Australia, 58 patients with Gaucher disease were managed by a Gaucher Disease Advisory Committee (GDAC) through a centrally adminis-tered national programme, the Life Savings Drug Program (LSDP). In June 2009, Genzyme Corporation, which…
View article: Complex genetic test requests in SA: An MDT approach
Complex genetic test requests in SA: An MDT approach Open
View article: Metabolic emergencies and the emergency physician
Metabolic emergencies and the emergency physician Open
Fifty percent of inborn errors of metabolism are present in later childhood and adulthood, with crises commonly precipitated by minor viral illnesses or increased protein ingestion. Many physicians only consider IEM after more common condi…
View article: Appendix B. Evaluation of the seasonal conditional Arnason-Schwarz model structure.
Appendix B. Evaluation of the seasonal conditional Arnason-Schwarz model structure. Open
Evaluation of the seasonal conditional Arnason-Schwarz model structure.
View article: Appendix A. Estimation of pike abundances from catch data.
Appendix A. Estimation of pike abundances from catch data. Open
Estimation of pike abundances from catch data.
View article: Appendix C. Model ranking tables.
Appendix C. Model ranking tables. Open
Model ranking tables.
View article: The relationship between fasting plasma citrulline concentration and small intestinal function in the critically ill
The relationship between fasting plasma citrulline concentration and small intestinal function in the critically ill Open