Congenital disorders of glycosylation (CDG) are a group of inborn errors of metabolism presenting with heterogeneous multisystemic clinical manifestations. To date, more than 60 different types of CDG have been reported. [ingentaconnect.com]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.ro]

Affected individuals may also present with eye, skin, and cardiac disease, as well as facial dysmorphisms. [atm.amegroups.com]

At present, the variable presentation and severity of the different defects along the ER N-glycosylation pathway is unexplained at the functional level. [jmg.bmj.com]

Furthermore, our sibling pair highlights the intrafamilial variability, the natural clinical course of ALG3-CDG (CDG-Id) and the benefit of reassessing patients with undiagnosed and complex syndromes, particularly when they present with neurological deterioration [ncbi.nlm.nih.gov]

• Developmental Delay

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  delay Hyperreflexia Hypertonia Hypsarrhythmia Microcephaly Psychomotor retardation Seizures Ear malformation Macrotia IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that [ncbi.nlm.nih.gov]

  Can involve seizures, developmental delays, tooth or mouth problems. [apraxia-kids.org]

  The clinical symptoms of CDG vary from hypoglycemia, gastrointestinal disorders, severe developmental delay or neurodegeneration, and may include death. [bcm.edu]

  Orpha Number: 79321 Disease definition ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and [rarediseases.info.nih.gov]

• Developmental Disorder

  It's even harder when that disorder is so rare, most doctors have never heard of it. Raising a child with a developmental disorder is hard. It is even harder when that disorder is so rare, most doctors have never heard of it. [kpbs.org]

  (Worthy et. al., 2013) 7q11.23 Duplication syndrome 7q11.23 duplication syndrome is a developmental disorder resulting from an extra copy of ~25 genes on the long arm of chromosome 7. [apraxia-kids.org]

• Nail Abnormality

  Iris coloboma Optic atrophy Severe visual impairment Strabismus Abnormality of the integument Nail dysplasia Small nail Abnormality of the musculoskeletal system Adducted thumb Arthrogryposis multiplex congenita Clinodactyly Clinodactyly of the 5th toe [ncbi.nlm.nih.gov]

• Fatigue

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Menkes Disease July 9, 2018 by Peter [checkrare.com]

• Vomiting

  […] thumb Clinodactyly Clinodactyly of the 5th toe Clubfoot Joint contracture of the hand Long fingers Abnormality of metabolism/homeostasis Food intolerance Type I transferrin isoform profile Abnormality of the digestive system Diarrhea Villous atrophy Vomiting [ncbi.nlm.nih.gov]

  If left untreated, the disease can cause a wide array of problems including chronic diarrhea, a failure to grow at the expected rate, a loss of protein from the body, vomiting, low blood sugar, difficulty in forming blood clots, and liver disease. [counsyl.com]

  […] vision [ more ] 0001141 Small nail Small nails 0001792 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Type I transferrin isoform profile 0003642 Villous atrophy 0011473 Vomiting [rarediseases.info.nih.gov]

  Issues in Infancy-CDG Medical Issues include: Failure to thrive Oral motor dysfunction with persistent vomiting Abnormal liver function, coagulopathy and the “infantile catastrophic phase” Strabismus Pericardial effusion Hypothyroidism 29. [slideshare.net]

  There was no significant vomiting or diarrhoea. From 8 weeks on, a progressive ascites occurred leading to secondary complications including tachypnoea and dyspnoea. [jmg.bmj.com]

• Diarrhea

  Abnormality of limbs Adducted thumb Clinodactyly Clinodactyly of the 5th toe Clubfoot Joint contracture of the hand Long fingers Abnormality of metabolism/homeostasis Food intolerance Type I transferrin isoform profile Abnormality of the digestive system Diarrhea [ncbi.nlm.nih.gov]

  If left untreated, the disease can cause a wide array of problems including chronic diarrhea, a failure to grow at the expected rate, a loss of protein from the body, vomiting, low blood sugar, difficulty in forming blood clots, and liver disease. [counsyl.com]

  0001864 Decreased light- and dark-adapted electroretinogram amplitude 0000654 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Diarrhea [rarediseases.info.nih.gov]

  Clinical features of CDG-Ib Children present with failure to thrive, hypoglycemia (low blood sugar) and malabsorptive diarrhea The children are developmentally normal 27. [slideshare.net]

  Both showed significant failure to thrive with vomiting, diarrhea, and food intolerance necessitating feeding tubes. Duodenal biopsies showed villous atrophy. [omim.org]

• Food Intolerance

  […] nose Depressed nasal bridge Epicanthus High palate Microcephaly Wide nasal bridge Abnormality of limbs Adducted thumb Clinodactyly Clinodactyly of the 5th toe Clubfoot Joint contracture of the hand Long fingers Abnormality of metabolism/homeostasis Food [ncbi.nlm.nih.gov]

  intolerance 0012537 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Hypsarrhythmia 0002521 Iris coloboma Cat eye 0000612 Joint contracture of the hand 0009473 Long fingers [rarediseases.info.nih.gov]

  Both showed significant failure to thrive with vomiting, diarrhea, and food intolerance necessitating feeding tubes. Duodenal biopsies showed villous atrophy. [omim.org]

• High Arched Palate

  The facial features include a small head size, thick scalp hair which may extend onto the forehead, down-slanting eyes, prominent nose, small mouth, and a high-arched palate. [apraxia-kids.org]

  Both children had abnormalities of the uvula and high-arched palates. The girl had hypoplasia of the cerebellum, as is seen in CDG Ia (212065). In neither child was there hepatic dysfunction. [omim.org]

  Other clinical features can include rough skin (follicular hyperkeratosis) or 'sand paper' papular rash56,61,114, hyperhidrosis, congenital hip dislocation, torticollis, prominent ears, facial weakness with a high arched palate, and prominent heels. [scielo.br]

• Macrotia

  […] fingers Microcephaly Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar atrophy Cerebral atrophy Global developmental delay Hyperreflexia Hypertonia Hypsarrhythmia Microcephaly Psychomotor retardation Seizures Ear malformation Macrotia [ncbi.nlm.nih.gov]

  0012537 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Hypsarrhythmia 0002521 Iris coloboma Cat eye 0000612 Joint contracture of the hand 0009473 Long fingers 0100807 Macrotia [rarediseases.info.nih.gov]

• Small Head

  Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally [rarediseases.oscar.ncsu.edu]

  Symptoms Psychomotor retardation Hypotonia Seizures Optic atrophy Small head Reduced responsiveness Adducted thumbs Cognitive impairment Muscular hypotonia Treatment No treatment is available for most of these disorders. [checkorphan.org]

  Other characteristics include low birth weight (often under five pounds), slow growth, small stature, and small head size. Other features may include excessive body hair and small hands and feet. [apraxia-kids.org]

  […] skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 Seizures Seizure 0001250 Percent of people who have these symptoms is not available through HPO Adducted thumb Inward turned [rarediseases.info.nih.gov]

• Flexion Contracture

  contracture Hypertonia Joint contracture of the hand Long fingers Microcephaly Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar atrophy Cerebral atrophy Global developmental delay Hyperreflexia Hypertonia Hypsarrhythmia Microcephaly [ncbi.nlm.nih.gov]

• Muscle Hypotonia

  Patients manifest generalized muscle weakness and hypotonia from early infancy, mental retardation, and seizures. [scielo.br]

• Strabismus

  […] intolerance Type I transferrin isoform profile Abnormality of the digestive system Diarrhea Villous atrophy Vomiting Abnormality of the eye Decreased light- and dark-adapted electroretinogram amplitude Iris coloboma Optic atrophy Severe visual impairment Strabismus [ncbi.nlm.nih.gov]

  The boy had cortical blindness, and his sister had strabismus. Both showed significant failure to thrive with vomiting, diarrhea, and food intolerance necessitating feeding tubes. Duodenal biopsies showed villous atrophy. [omim.org]

  The majority of N-linked CDGs present in infancy, and symptoms may include failure to thrive, developmental delay, liver dysfunction, seizures, hypotonia, hypoglycemia, protein-losing enteropathy, eye dysfunction (such as strabismus or retinitis pigmentosa [preventiongenetics.com]

  […] the trunk Low muscle tone in trunk 0008936 Nail dysplasia Atypical nail growth 0002164 Optic atrophy 0000648 Severe vision loss Marked vision impairment Severe visual impairment Severely impaired vision [ more ] 0001141 Small nail Small nails 0001792 Strabismus [rarediseases.info.nih.gov]

  Other classical hallmarks of CDG-Ia are cerebellar hypoplasia and strabismus (lack of coordinated eye movements). [themedicalbiochemistrypage.org]

• Visual Impairment

  […] homeostasis Food intolerance Type I transferrin isoform profile Abnormality of the digestive system Diarrhea Villous atrophy Vomiting Abnormality of the eye Decreased light- and dark-adapted electroretinogram amplitude Iris coloboma Optic atrophy Severe visual [ncbi.nlm.nih.gov]

  CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017). [omim.org]

  Severe visual impairment Severely impaired vision [ more ] 0001141 Small nail Small nails 0001792 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Type I transferrin [rarediseases.info.nih.gov]

• Visual Impairment

  […] homeostasis Food intolerance Type I transferrin isoform profile Abnormality of the digestive system Diarrhea Villous atrophy Vomiting Abnormality of the eye Decreased light- and dark-adapted electroretinogram amplitude Iris coloboma Optic atrophy Severe visual [ncbi.nlm.nih.gov]

  CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017). [omim.org]

  Severe visual impairment Severely impaired vision [ more ] 0001141 Small nail Small nails 0001792 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Type I transferrin [rarediseases.info.nih.gov]

• Psychomotor Retardation

  CDG type 1 diseases result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency (Sun et al. 2005). [reactome.org]

  They share similar clinical features with previously reported patients including facial dysmorphism, severe psychomotor retardation, microcephaly, seizures, and gastrointestinal symptoms. [ncbi.nlm.nih.gov]

  Symptoms Psychomotor retardation Hypotonia Seizures Optic atrophy Small head Reduced responsiveness Adducted thumbs Cognitive impairment Muscular hypotonia Treatment No treatment is available for most of these disorders. [checkorphan.org]

  Both exhibited psychomotor retardation, hypotonia, hepatomegaly, microcephaly, and seizures. [themedicalbiochemistrypage.org]

• Bulbous Nose

  Show allHide all Abnormality of head or neck Bulbous nose Depressed nasal bridge Epicanthus High palate Microcephaly Wide nasal bridge Abnormality of limbs Adducted thumb Clinodactyly Clinodactyly of the 5th toe Clubfoot Joint contracture of the hand [ncbi.nlm.nih.gov]

  Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 Showing of 39 | Last updated: 12/1/2018 Making a diagnosis for a genetic [rarediseases.info.nih.gov]

  Dysmorphic features were variable, but included large ears, bulbous nose, and long fingers. Both had axial hypotonia and hyperreflexia. The boy had pectus excavatum with hypoplastic nipples. [omim.org]

• Depressed Nasal Bridge

  Show allHide all Abnormality of head or neck Bulbous nose Depressed nasal bridge Epicanthus High palate Microcephaly Wide nasal bridge Abnormality of limbs Adducted thumb Clinodactyly Clinodactyly of the 5th toe Clubfoot Joint contracture of the hand [ncbi.nlm.nih.gov]

  nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Diarrhea Watery stool 0002014 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 [rarediseases.info.nih.gov]

  nasal bridge in patients P2, P3, P5 and P6 (B, D, G, I). [journals.plos.org]

• Broad Nasal Bridge

  bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal [rarediseases.info.nih.gov]

  Wide nasal bridge Wide bridge of nose, Increased breadth of nasal bridge, Broad nasal root, Increased breadth of bridge of nose, Broad nasal bridge, Widened nasal bridge, Broad flat nasal bridge, Increased width of nasal bridge, Increased width of bridge [rarediseases.oscar.ncsu.edu]

• Seizure

  The term epilepsy is used to describe chronic, recurrent seizures. [rarediseases.oscar.ncsu.edu]

  They share similar clinical features with previously reported patients including facial dysmorphism, severe psychomotor retardation, microcephaly, seizures, and gastrointestinal symptoms. [ncbi.nlm.nih.gov]

  Clinical Management Paketci et al. (2020) reported that treatment with a ketogenic diet resulted in control of intractable seizures in 2 sibs with CDG Id. [omim.org]

  Symptoms Psychomotor retardation Hypotonia Seizures Optic atrophy Small head Reduced responsiveness Adducted thumbs Cognitive impairment Muscular hypotonia Treatment No treatment is available for most of these disorders. [checkorphan.org]

• Global Developmental Delay

  developmental delay Hyperreflexia Hypertonia Hypsarrhythmia Microcephaly Psychomotor retardation Seizures Ear malformation Macrotia IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide [ncbi.nlm.nih.gov]

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  Showing of 39 | 80%-99% of people have these symptoms Abnormality of vision Abnormality of sight Vision issue [ more ] 0000504 Global developmental delay 0001263 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of [rarediseases.info.nih.gov]

  Both were pleasant in demeanor with severe global developmental delay and no speech development. The boy had cortical blindness, and his sister had strabismus. [omim.org]

  Constitutionally, patients commonly have failure to thrive due to feeding and GI abnormalities and global developmental delay. [atm.amegroups.com]

• Hyperreflexia

  Clinodactyly Clinodactyly of the 5th toe Flexion contracture Hypertonia Joint contracture of the hand Long fingers Microcephaly Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar atrophy Cerebral atrophy Global developmental delay Hyperreflexia [ncbi.nlm.nih.gov]

  Diarrhea Watery stool 0002014 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Food intolerance 0012537 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia [rarediseases.info.nih.gov]

  Both had axial hypotonia and hyperreflexia. The boy had pectus excavatum with hypoplastic nipples. Although both patients were severely affected, the girl had more severe digestive issues, while her brother had more neurologic impairment. [omim.org]

  Two cases of CDG-IIj have been described where one patient suffered from milder symptoms including dysmorphic features, such as down-sloping frontal area and thick hair, mild neurologic signs, including axial hypotonia, mild peripheral hypertonia, and hyperreflexia [themedicalbiochemistrypage.org]

• Delayed Milestone

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

Further diagnostic workup by Tf IEF analysis confirmed abnormal serum %CDT results. [clinchem.aaccjnls.org]

• Hypsarrhythmia

  5th toe Flexion contracture Hypertonia Joint contracture of the hand Long fingers Microcephaly Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar atrophy Cerebral atrophy Global developmental delay Hyperreflexia Hypertonia Hypsarrhythmia [ncbi.nlm.nih.gov]

  […] eye folds [ more ] 0000286 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Food intolerance 0012537 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Hypsarrhythmia [rarediseases.info.nih.gov]

  Both children were microcephalic and developed hypsarrhythmia and intractable seizures. The boy had optic atrophy and a coloboma of the iris. Both children had abnormalities of the uvula and high-arched palates. [omim.org]

  The single patient thus far identified with this form of CDG exhibited severe psychomotor retardation, spasms, hypsarrhythmia, and irregular nystagmus (involuntary eye movements). Examination of the brain by MRI showed significant dysmyelination. [themedicalbiochemistrypage.org]

• Hypoglycemia

  The only treatable form of CDG is CDG type Ib, which generally presents with hypoglycemia with or without liver disease, but no neurologic deficits. [cancertherapyadvisor.com]

  The clinical symptoms of CDG vary from hypoglycemia, gastrointestinal disorders, severe developmental delay or neurodegeneration, and may include death. [bcm.edu]

  The authors noted that the patient had hyperinsulinemic hypoglycemia, which had not previously been reported in CDG Id. [omim.org]

  The majority of N-linked CDGs present in infancy, and symptoms may include failure to thrive, developmental delay, liver dysfunction, seizures, hypotonia, hypoglycemia, protein-losing enteropathy, eye dysfunction (such as strabismus or retinitis pigmentosa [preventiongenetics.com]

  Mutat. (2004) [ Pubmed ] Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. Sun, L., Eklund, E.A., Chung, W.K., Wang, C., Cohen, J., Freeze, H.H. J. Clin. Endocrinol. [wikigenes.org]

A polysaccharide immunomodulator with therapeutic implications, carbohydrate vaccines, new findings emphasizing the influence of carbohydrate decoration on the regulation of inflammatory response and new therapeutic approaches in the treatment of acute [books.google.ro]

Symptoms Psychomotor retardation Hypotonia Seizures Optic atrophy Small head Reduced responsiveness Adducted thumbs Cognitive impairment Muscular hypotonia Treatment No treatment is available for most of these disorders. [checkorphan.org]

Most will need a team of medical specialists to monitor their health over time and adjust needed treatments. [chop.edu]

Generally, the prognosis will vary depending on the severity of symptoms and their response to mannose treatment. [counsyl.com]

We report two affected siblings presenting prenatally with skeletal abnormalities associated with dysmorphic features, cerebellar vermis hypoplasia, corpus callosum agenesis, hepatic fibrosis and poor prognosis. [ingentaconnect.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

“So they don’t have a prognosis on how long the life expectancy is," Omler said. "They don’t know if it’s going to get worse, they don’t know if it’s going to get any better. So there’s a lot they don’t know. And we understand that." [kpbs.org]

Given the prognosis regarding her neurological and musculo-skeletal condition, she has managed to improve her balance in certain positions and she can better hold a glass of water, she can now stand up with minimal assistance. [blog.mirarehab.com]

Implications of this discovery challenged the prevailing paradigm that protein hypoglycosylation is the only etiology of CDGs. Monoglucosylated Man9GlcNAc2 is a key structural motif in calnexin/calreticulin binding. [epostersonline.com]

Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1. [atm.amegroups.com]

Johnson, Lambro A. et al. (2013): BMI but not stage or etiology of nonalcoholic liver disease affects the diagnostic utility of carbohydrate-deficient transferrin. Alcoholism, clinical and experimental research 37 (10), S. 1771–1778. [med4you.at]

Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. Clin Chem 2000 ; 46 : 584 -586. ↵ van Pelt J, Azimi H. [clinchem.aaccjnls.org]

In addition, several CDGs of so far unknown etiology (CDG-x) have been recognized. [biochemia-medica.com]

[…] type 2 Transaldolase deficiency Synonym(s): - CDGIt Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare hepatic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for PMM2 Genetic Association Database (GAD) PMM2 Human Genome Epidemiology (HuGE) Navigator PMM2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PMM2 No data available for Genatlas for PMM2 Gene Mutations in PMM2 [genecards.org]

The epidemiology of CMD is not well known. Data from an epidemiological study in North-East Italy, considering the period 1979-1993, reported an incidence rate of 4.65 × 10(–5) and a prevalence rate of 6.8 × 10(–6)3. [scielo.br]

Epidemiology The incidence and prevalence of all types of CDG in aggregate have not been well established, although patients have been reported worldwide from almost every ethnic background and both sexes are equally affected. [atm.amegroups.com]

PIGS-associated early onset epileptic developmental encephalopathy. 61 Efthymiou S...Houlden H 33410539 2021 37 Deciphering the premature mortality in PIGA-CDG - An untold story. 61 Bayat A...Moller RS 33508693 2021 38 N-Glycan Modification in Covid-19 Pathophysiology [malacards.org]

Although the pathophysiology of multitude symptoms remains to be elucidated, the relationship between certain glycosylation pathways and specific clinical symptoms has been clarified. [atm.amegroups.com]

However, more work is needed to pinpoint the exact function of MAN1B1 in glycoprotein quality control, and to understand the pathophysiology of its deficiency. [journals.plos.org]

Altered terminal glycosylation and the pathophysiology of CF lung disease. J Cyst Fibros 2004 ; 3 Suppl 2 : 95 -96. ↵ Albahri Z, Marklova E, Vanicek H, Minxova L, Dedek P, Skalova S. [clinchem.aaccjnls.org]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.ro]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.it]

The MPDU1 gene was identified on the basis of the fact that it could rescue defects in Chinese hamster ovary (CHO) cells that prevented the synthesis and utilization of Dol-P-Man. [themedicalbiochemistrypage.org]