ArticleJournal of clinical and experimental hepatology
Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study.
Article in Journal of clinical and experimental hepatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Pooled it
- Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.Journal of inherited metabolic disease · 2026Observational
- Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Orphanet journal of rare diseases · 2024Review
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
- Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.PloS one · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlycogen storage disease (GSD) is typified by early morning seizures. Absence of this results in delayed diagnosis, especially the non-GSD 1 group. Data are limited to few patients with unclear outcome.
objectives1. Study the common presentation and types of GSD. 2. Study the clinical and biochemical outcome. 3. Review genetic mutations.
methodsObservational study from May 2016-April 2019 at metabolic clinic at our center.
resultsTotal of 30 patients were diagnosed with GSD. Ten were excluded-Fanconi-Bickel (3) and <4 months follow-up (7). Data were analyzed for 20 patients (16 males). Mean age at presentation was 4.3 yrs. All had hepatomegaly, 90% had short stature, and 40% had early morning seizures. Mean follow-up was 22 months. There was a statistically significant improvement in metabolic parameters on treatment (mean)-fasting glucose from 50.4 to 79.5 mg/dl, SGPT from 416 to 199 U/L. Lipid profile showed reduction in triglycerides (318-225 mg/dl) but minimal increase in cholesterol (178-188 mg/dl). Mean weight centile improved from 14.1 to 20.3 and height centile from 2.3 to 7.9. Genetic testing confirmed types VI (3), III (3), IXa (1), IXc (1), and Ia (1). Liver biopsy confirmed GSD in 15/20. All were managed with uncooked corn starch. In addition, omega-3 fatty acid was used in 8/20 and high protein diet in 2 with GSD type III.
conclusionAwareness of GSD needs to improve among pediatricians and hepatologists. The most common symptoms are asymptomatic hepatomegaly and short stature. Dietary therapy with uncooked corn starch remains mainstay of treatment. Mixed hyperlipidemia is difficult to control despite good metabolic improvement. Role of omega-3 fatty acid needs to be explored further. Genetic mutation analysis can assist with tailoring treatment and should get precedence over liver biopsy.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.