Publications
The Portuguese Association for CDG is committed to advancing CDG and related metabolic disorders research.
With the creation of CDG&Allies-PPAIN, 12 research lines have been developed.
With the creation of CDG&Allies-PPAIN, 12 research lines have been developed.
In this section, you can have access to the publications generated from our research projects
We are extremely grateful to our volunteers, researchers and physicians, who have been doing an outstanding job!
We are very grateful to YOU, who has funded and supported our innovative Patient-centered Research Model (visit CDG&Allies-PPAIN to know more)
We expect to publish many more important scientific articles in the year of 2018!
All our work is done in a volunteer basis, we do not receive any kind of government fund or any other form of financial support. Please consider making a DONATION!
IMPORTANT DISCLOSURE REMARK:
Due to copyright purposes, if you wish one of these articles please write to sindromecdg@gmail.com
All our work is done in a volunteer basis, we do not receive any kind of government fund or any other form of financial support. Please consider making a DONATION!
IMPORTANT DISCLOSURE REMARK:
Due to copyright purposes, if you wish one of these articles please write to sindromecdg@gmail.com
This service is done in collaboration with the CDG & Allies Community International Advisory Committee members (more information HERE).
To know more about this service, please donwload the press release below:
To know more about this service, please donwload the press release below:
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CDG & ALLIES - PPAIN PUBLICATIONS
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies- PPAIN) was founded by the Portuguese Association for CDG (APCDG)
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies- PPAIN) was founded by the Portuguese Association for CDG (APCDG)
CDG & Allies-PPAIN comprises the leading minds in the field of Congenital Disorders of Glycosylation (CDG).
Please visit the 12 work packages and their working groups to learn about our research!
Please visit the 12 work packages and their working groups to learn about our research!
Our achievements have a positive impact in CDG children and adults' lives!
Our Publications
THERAPIES
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27/04/2018
This paper systematically lists and explains the therapeutic advances being made for CDG. Some therapies are already available, while other are still in early development stages. Nevertheless, many exciting advances have been made in the field of CDG treatments.
You can find the abstract HERE and order the complete article HERE. |
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29/11/2018
Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and necessary tools, namely in clinical trials. PROMs are instruments that capture directly the patient experience with their disease. One of the aspects most commonly assessed by PROMs is health-related quality of life (HrQoL).
Inherited Metabolic Diseases (IMDs) - among which CDG are included - are a group of disorders that range from mild to severe clinical presentations, but most lacking effective therapies. This work focuses on the existing PROMs tools to measure HrQoL among this patient population. You can find the abstract HERE and order the complete article HERE. |
DIAGNOSIS
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09/11/2018
This paper acts as a diagnosis roadmap for clinicians and intendeds to help guide them throughout the process of a CDG diagnosis - from suspicion to genetic confirmation.
It also includes n updated list of all CDG types identified to date. Finally, this short review can also be used as a lobbying and awareness tool. You can find the abstract HERE and order the complete article HERE. |
OPHTHALMOLOGY
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01/02/2018
This systematic review of the literature identifies CDG subtypes, caused by defects in the O-glycosylation mechanism subtypes, with eye involvement.
We identified eye problem in 15 CDG subtypes, which means that over 60% of all O-glycosylation CDG have vision affectation. We also discuss and describe potential causative molecular mechanisms and present exisitng animal models, as well as explore possible therapeutic avenues. We believe this work can improve diagnosis,care and management of eye impairment in CDG patients, while also guiding research and promoting theray development. You can find the abstract HERE and order the complete article HERE. |
PATIENT-CENTRICITY IN CDG CARE & RESEARCH
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29/09/2017
This qualitative study was based on the think thank methodology applied to the CDG Community. It counted with a total of 48 participants, including patients/family members (n = 18), health care professionals (n = 7), researchers (n = 7) and people combining several of these roles (n = 16). Participants came from 20 countries across five continents. Participants were asked to identify their needs and suggest social measures that could result in a better and patient-centred approach to care and research. Suggested. social innovations included peer-support communities, web-based information resources and a CDG expertise platform.
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CARDIOLOGY
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19/07/2017
This literature review summarizes cardiac involvement, reported in 20% of CDG.
CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways. The aim of this review was to document and interpret the incidence of heart disease in CDG patients. Heart disorders were grouped into cardiomyopathies, structural defects, and arrhythmogenic disorders. You can find the abstract HERE and order the complete article HERE. |
HEPATOLOGY
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26/07/2018
This paper focuses on the application of an online patient-centered questionnaire to evalute liver involvement in CDG patients. A total of 155 questionnaires were completed. Impressively, the results obtained from this approach match those acquired through a thorough revision f the literature on this topic.
This innovative research strategy outcomes many of the limitations related to rare disease research, accelerates the research projects while empowering patients and families and reinforcing the link between families and professionals. You can find the abstract HERE and order the complete article HERE. 20/01/2017
Liver is among the affected organs in CDG Patients. In this review, CDG are divided into major and minor categories in terms of severity and frequency of liver disease.
CDG with major liver involvement: MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG CDG with minor liver involvement: PMM2-CDG, ALG1-CDG, ALG3-CDG, ALG6-CDG, ALG8-CDG, ALG9-CDG, PGM1-CDG, and COG-CDG. You can find the abstract HERE and order the complete article HERE. |
IMMUNOLOGY
Other publications found at Pubmed (Pubmed is a free search engine providing access to MEDLINE® database of indexed citations and abstracts to medical, nursing, dental, veterinary, health care, and preclinical sciences journal articles )
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DIAGNOSTICS
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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
July 2018 This basic research article sheds some light on the difficulty of establishing relationships between mutation type and the symptoms presented by PMM2-CDG patients. Authors have found that PMM2 gene has a higher frequency of mutations among the general population and that mutations affecting other genes responsible for CDG type I might influence the symptoms presented by PMM2-CDG patients. You can find the abstract HERE and access the complete article HERE. A Patient Friendly Abstract is available HERE. |
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THERAPEUTIC APPROCHES
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November 2017
This is a short review on nutritional approaches to treat CDG. For instance, MPI-CDG was the first tretable CDG by mannose (a specific sugar) administration. There are currently, various types of CDG and sugars under clinical trials. And, actually, for another type of CDG called PGM1-CDG, galactose administration has been showing some very promising results.
You can find the abstract HERE and order the complete article HERE. |
February 2017
This basic research article applies the technical and technological solution of pharmacological chaperones (small molecules that stabilize proteins, allowing them to get their normal conformation and function) to the treatment of PMM2-CDG, finding and characterizing one promising candidate.
This is an exciting therapeutic approach applicable to missense gene mutations, which translate into unstable proteins being formed.
So, in theory, this approach could be used to treat ALL CDG patients with that type of mutation (missense mutation).
You can find the abstract HERE and order the complete article HERE.
This is an exciting therapeutic approach applicable to missense gene mutations, which translate into unstable proteins being formed.
So, in theory, this approach could be used to treat ALL CDG patients with that type of mutation (missense mutation).
You can find the abstract HERE and order the complete article HERE.
July 2017
SLC39A8-CDG is dual pathway disorder, as it is both caused by manganese (Mn) deficiency, which in turn leads to glycosylation alterations. In this preliminary study in 2 patients, 15 and 20 mg MnSO4/kg bodyweight were administered per day. Glycosylation and blood manganese were monitored closely. Considerable clinical improvement regarding motor abilities, hearing, and other neurological manifestations was observed, thefore indicating that high doses of Mn may be an effective therapeutic strategy for these patients. There is actually an ongoing trial in Munster (Germany).
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
NEUROLOGY
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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
September 2017
In this study, 20 PMM2-CDG between the ages of 5-18 years-old participated .
The aim of the study was to better understand the progression of cerebellar problems in these patients as well as to correlate the findings to the patients' health. For that purpose, patients were submitted to sequential assessments by application of the International Cooperative Ataxia Rating Scale (ICARS). Two measurements were performed during a 20 month period. Patients were found to have progessive loss of cerebellum mass (cerebellar atrophy), althghout that loss of volume was not related to decreased cerebellar function, as patients generally exhibited stabilization or mild improvement in the cerebellar syndrome. The authors of the study point out the need to have more validated tools, such as ICARS, to ensure sensitive and effective follow-up of PMM2-CDG patients, including in the context of therapy assessment. You can find the abstract HERE and order the complete article HERE. |
March 2017
CDG disorders can be associated with epileptic spasms showing particular features, such as absence of hypsarrhythmia, posterior EEG anomalies, and an unusual combination of epileptic spasms with myoclonus. This publication reports the electroclinical features in five children with CDG (ALG1-, ALG6, ALG11-CDG and CDG-Ix) and epileptic spasms.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
March 2017
Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). This article reports a SLC35A2 patient with intractable seizures that were diminished after specific therapy.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
October 2016
A review of clinical, electrophysiological, and neuroimaging findings of 27 CDG patients focusing on seizure onset, semiology and frequency, response to antiepileptic drugs (AED), and early epileptic manifestations. Epilepsy was uncommon in PMM2-CDG (11%), while it was a main concern in other rare forms.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
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GASTROENTEROLOGY
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2016
Four CDG patients were identified with different mutations in TMEM199, a protein involved in Golgi homeostasis. Patients presented N- and O- glycosylation defects with a mild phenotype of hepatic steatosis, elevated aminotransferases and alkaline phosphatase, hypercholesterolemia, as well as low serum ceruloplasmin. TMEM199 deficiency results in a hepatic phenotype with abnormal glycosylation.
You can find the abstract HERE and order the complete article HERE. |
2016
Case report of the ninth case of DMP1-CDG, whose clinical presentation includes severe gastrointestinal involvement, i.e. food protein induced enterocolitis syndrome (FPIES). Gastrointestinal manifestations (GIT) of the congenital glycosylation disorders have included deranged liver function, hepatomegaly, liver fibrosis, steatosis and protein-losing enteropathy. This is the first report of a congenital glycosylation disorder being associated with FPIES.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
May 2010
Although there has been substantial progress in the identification of diarrheal diseases in infancy and childhood, electron microscopy may be still required for establishing diagnosis, staging, and response to therapy. In certain forms of congenital disorders of glycosylation with gastrointestinal involvement, electron microscopic diagnosis is helpful.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
March 2004
The typical signs and symptoms of congenital disorders of glycosylation (CDG) include dysmorphy, failure to thrive, and neurologic abnormalities. However, more and more children diagnosed at a young age are not dysmorphic and do not have neurologic involvement. The authors studied the gastrointestinal and other clinical manifestations of CDG type Ia, Ib, and Ic.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
CARDIOLOGY
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2016
This article reports a heart transplant performed on a DOLK-CDG patient presenting dilated cardiomyopathy with markedly reduced myocardial contractility.
On an early follow-up the boy had developed insulin-dependent diabetes mellitus. Two and a half years after his heart transplant, the boy continues to show a good psychological and physical development with excellent quality of life. You can find the abstract HERE and order the complete article HERE. |
2016
Phosphoglucomutase 1 deficiency has recently been reported as a novel disease that belongs to two different classes of metabolic disorders,congenital disorders of glycosylation (CDG) and glycogen storage diseases.This paper focuses on previously reported siblings with short stature, hypothyroidism, increased transaminases, and, in one of them, dilated cardiomyopathy (DCM).
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
December 2009
Cardiomyopathy in CDG has previously been described in several subtypes; it is usually associated with high morbidity and mortality and the majority of cases present in the first 2 years of life. This is the first case with presentation in late childhood and the article reviews current literature.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
BONE INVOLVEMENT
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2016
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November 2015
Case report two affected siblings presenting prenatally with skeletal abnormalities associated with dysmorphic features, cerebellar vermis hypoplasia, corpus callosum agenesis, hepatic fibrosis and poor prognosis. This is the first detailed report of an affected fetus including clinical, radiographic and pathological findings.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
July 2014
Authores describe three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, delineating their disease to be due to an unsuspected congenital disorder of glycosylation (CDG). Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
2013
Three TMEM165-CDG patients were reported with bone dysplasia. TMEM165-CDG is a consequence of deficiencies in proteins that are not specifically involved in glycosylation but that have functions in the organization and homeostasis of the intracellular compartments and the secretory pathway.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
ADULT MANAGEMENT
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August 2016
Case report of five individuals (three children and two adults) with mutations in SRD5A3 focusing on the variable eye and skin involvement. We compare that to 13 affected individuals from the literature including five adults allowing us to delineate the features that may develop over time with this disorder including kyphosis, retinitis pigmentosa, and cataracts.
You can find the abstract HERE and order the complete article HERE. |
December 2014
The phenotype of PMM2-CDG is well characterized in children but the long term course of the disease is unknown and the phenotype of late onset forms has not been comprehensively described. We thus retrospectively collected the clinical, biological and radiological data of 29 French PMM2-CDG patients aged 15 years or more with a proven molecular diagnosis (16 females and 13 males).
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
August 2007.
An increasing number of American adults with CDG-Ia (PMM2-CDG) are being recognized but little is documented on the morbidity and mortality in this population. These adults have moderate mental retardation, ataxia, retinitis pigmentosa, peripheral neuropathy, kyphoscoliosis, and endocrinopathies. Four adults with CDG-Ia, ages 19-36 years old are presented.
You can find the abstract HERE and order the complete article HERE.
You can find the abstract HERE and order the complete article HERE.
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