Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using

Abrar Turki, Sylvia Stockler, Sandra Sirrs, Kathleen Duddy, Gloria Ho, Rajavel Elango

Open access · goldAbstract read

In one paragraph

Article in Molecular genetics and metabolism reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact, top 100% of its field

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Abrar TurkiBC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.

Sylvia StocklerBC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.

Sandra SirrsDepartment of Medicine, Division of Endocrinology, University of British Columbia, Vancouver, British Columbia, Canada.

Kathleen DuddyDivision of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada.

Gloria HoDivision of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada.

Rajavel ElangoBC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.

BC Children's Hospital · CAUniversity of British Columbia · CAVancouver Coastal Health · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Glycogen storage disease type Ib (GSD Ib) is an autosomal recessively inherited deficiency of the glucose-6-phosphate translocase (G6PT). Clinical features include a combination of a metabolic phenotype (fasting hypoglycemia, lactic acidosis, hepatomegaly) and a hematologic phenotype with neutropenia and neutrophil dysfunction. Dietary treatment involves provision of starches such as uncooked cornstarch (UCCS) and Objective: Our objective was to measure the utilization of starch in a patient with GSD Ib before and after HSCT using the minimally invasive Design: A case of GSD Ib (18y; female) underwent Results: UCCS utilization was significantly higher in GSD Ib pre-HSCT, which reduced and stabilized 5 months post-HSCT. UCCS and Conclusions: Findings show that HSCT stabilized UCCS utilization, as reflected by lower and stable glucose oxidation. The results also illustrate the application of

Indexed as

13C-GBT, 13C-glucose breath test13C-glucoseALT, alanine aminotransferaseAML, acute myeloid leukemiaANOVA, analysis of varianceAST, aspartate aminotransferaseAUC, area under the curveBIA, bioelectrical impedance analysisBMI, body mass indexBreath testCF-IRMS, continuous flow isotope ratio mass spectrometerCGM, continuous glucose monitorCmax, maximum peak enrichment in 13CO2 oxidationCRP, C-reactive proteinER, endoplasmic reticulumFFM, fat free massFM, fat massG6Pase-ß, glucose-6-phosphatase-βG6Pase-α, glucose-6-phosphatase-αG6P, glucose-6-phosphateG6PT, glucose-6-phosphate translocaseG-CSF, granulocyte colony-stimulating factorGGT, gamma glutamyltransferaseGlycogen storage disease type IbGlycosade®GSD Ia, glycogen storage disease type IaGSD Ib, glycogen storage disease type IbGSD I, glycogen storage disease type IGSD III, glycogen storage disease type IIIHematopoietic stem cell transplantationHSCT/BMT, hematopoietic stem cell transplantation / bone marrow transplantationIBD, inflammatory bowel diseaseIM, intramuscularNG, nasogastricTBW, total body watertmax, time to reach maximum 13CO2 oxidationUCCS, uncooked cornstarchUncooked cornstarchVCO2, rate of carbon dioxide production.

Identifiers

PMID36632325

DOI10.1016/j.ymgmr.2023.100955

PMCPMC9826966

OpenAlexW4313452595

What OpenQuestion holds

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LicenceCC BY-NC-ND

Read underepoch 390

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.