David A. Weinstein
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Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set Open
An international consensus-based standard set of person-centered health outcomes for liver GSD was developed to apply in health care, registries, and clinical trials.
Safety and Efficacy of <span>DTX401</span> , an <span>AAV8</span> ‐Mediated Liver‐Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a ( <span>GSDIa</span> ) Open
Glycogen storage disease type Ia (GSDIa) is a rare, life‐threatening, inherited carbohydrate metabolism disorder caused by glucose‐6‐phosphatase (G6Pase) deficiency, which is essential for glycogenolysis and gluconeogenesis. GSDIa manageme…
Idiopathic Pathological Ketotic Hypoglycemia: Finding the Needle in a Haystack Open
Sick children often have a decreased appetite and experience vomiting and diarrhea; however, hypoglycemia (plasma glucose concentration ≤50 mg/dL or 2.8 mmol/L) is rare. Ketotic hypoglycemia (KH) is the most common cause of hypoglycemia pr…
View article: Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study
Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study Open
Hepatic glycogen storage diseases (GSD) are characterized by recurrent episodes of hypoglycemia, and anemia has been recognized as a frequent complication of these disorders. This was a convenience cross-sectional study to evaluate hepcidi…
Health IT Regulation: Report of an Implementation Challenge Open
Over the past 14 years, Health Information Technology (Health IT) regulation has been successful in transitioning health care providers in the United States from paper-based to electronic health records. This success was largely a result o…
Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by Oral D-[6,6-2H2]-glucose Open
Context Glycogen storage disease type Ia (GSDIa) is an inborn metabolic disorder characterized by impaired endogenous glucose production (EGP). Monitoring of patients with GSDIa is prioritized because of ongoing treatment developments. Sta…
Fasting ketone levels vary by age: implications for differentiating physiologic from pathologic ketotic hypoglycemia Open
Objectives Ketone production is a physiological phenomenon that occurs during beta-oxidation of free fatty acids. Distinguishing physiologic ketosis from pathologic over-production/underutilization of ketones is critical as part of the dia…
Supplemental files from Endogenous glucose production in patients with glycogen storage disease type Ia estimated by oral D [6,6-2H2]-glucose Open
Supplemental file 1. Calculated M2 curve in study participants during glucose-SIB test 1 (blue), glucose-SIB test 2 (red) and glucose-SIB test 3 (green). Less than 25% decrease in concentration between the peak and the last time point were…
Ketotic hypoglycemia in patients with Down syndrome: an example of extreme citizen science in biomedicine Open
Ketotic hypoglycemia (KH) is an often-overlooked disorder with low blood sugar and accelerated fat burn, sometimes in association with a syndromic disease. The Facebook support group for members of the patient organization Ketotic Hypoglyc…
View article: A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis
A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis Open
Glycogen storage disease type IX (GSD-IX) constitutes nearly a quarter of all GSDs. This ketotic form of GSD is caused by mutations in phosphorylase kinase (PhK), which is composed of four subunits (α, β, γ, δ). PhK is required for the act…
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients Open
Glycogen storage disease type Ia (GSDIa) is an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-α (G6Pase-α). Affected individuals develop renal and liver complications, including the development of hepa…
Method comparison of beta‐hydroxybutyrate point‐of‐care testing to serum in healthy children Open
Ketone production is a physiological phenomenon that occurs to avoid irreversible neurological damage from hypoglycemia, thereby serving as a marker of metabolic stress. The primary ketone body, beta‐hydroxybutyrate (BHB), guides the diagn…
Ketotic hypoglycemia in patients with Down syndrome Open
Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia b…
The potential of dietary treatment in patients with glycogen storage disease type <span>IV</span> Open
There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of th…
The Effect of Abobotulinum Toxin A on the Symptoms of Raynaud’s Phenomenon: A Case Series Open
Raynaud's phenomenon (RP) is a relatively common syndrome occurring alone or in combination with autoimmune and inflammatory diseases. It is characterized by pain and ulceration due to vasospasm in response to cold and stress, most often a…
Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance Open
The international liver glycogen storage disease (GSD) priority setting partnership (IGSDPSP) was established to identify the top research priorities in this area. The multiphase methodology followed the principles of the James Lind Allian…
Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI Open
Mutations in the liver glycogen phosphorylase ( Pygl ) gene are associated with the diagnosis of glycogen storage disease type VI (GSD‐VI). To understand the pathogenesis of GSD‐VI, we generated a mouse model with Pygl deficiency ( Pygl −/…
View article: A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor
A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor Open
Congenital neutropenias due to mutations in ELANE, SBDS or HAX1 or in the setting of glycogen storage disease (GSD) which is caused by SLC37A4 mutation, often require prolonged granulocyte colony stimulating factor (G‐CSF) therapy to preve…
View article: Capillary alginate gel (Capgel™) for the treatment of full-thickness dermal wounds in a hypoxic mouse model
Capillary alginate gel (Capgel™) for the treatment of full-thickness dermal wounds in a hypoxic mouse model Open
In this study, capillary alginate gel (Capgel™), a collagen and alginate based self-assembling biomaterial, was used as a cellular scaffold for the treatment of ischemic, full-thickness dermal wounds in mice. Capgel™ was synthesized using …
Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor Open
Purpose of review Glycogen storage disease Ib (GSD Ib) is characterized by hepatomegaly, hypoglycemia, neutropenia, enterocolitis and recurrent bacterial infections. It is attributable to mutations in G6PT1 , the gene for the glucose-6-pho…