Trial reportJournal of inherited metabolic disease1997
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
Trial report in Journal of inherited metabolic disease, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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
18 citing papers in PubMed, 66 citations in OpenAlex.
- Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.Journal of inherited metabolic disease · 2000Trial
- Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.Molecular genetics and metabolism · 2023Review
- Leukocyte Phosphomannomutase and Phosphomannose Isomerase Activity in an Indian Cohort.Indian journal of clinical biochemistry : IJCB · 2022Article
- Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.Frontiers in immunology · 2022Article
- Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.Nucleic acid therapeutics · 2014Review
- The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.AJNR. American journal of neuroradiology · 2012Article
- The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.JIMD reports · 2011Article
- A six-month-old infant with liver steatosis.The Journal of pediatrics · 2004Article
- Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.Journal of inherited metabolic disease · 2002Article
- High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).American journal of human genetics · 2001Article
- A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.Journal of medical genetics · 2001Article
- Carbohydrate-deficient glycoprotein syndromes: the Italian experience.Journal of inherited metabolic disease · 2000Article
- Carbohydrate-deficient glycoprotein syndromes.Postgraduate medical journal · 2000Review
- Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes.The Biochemical journal · 1999Article
- Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).Journal of inherited metabolic disease · 1998Article
- The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I).Journal of inherited metabolic disease · 1998Article
- Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.American journal of human genetics · 1998Article
- rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency).Journal of investigative medicine high impact case reportsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 12 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
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.