Carence en vitamine B12 : Questions médicales fréquentes
Nom anglais: Vitamin B 12 Deficiency
Descriptor UI:D014806
Tree Number:C18.654.521.500.133.699.923
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Carence en vitamine B12 : Questions médicales les plus fréquentes",
"headline": "Carence en vitamine B12 : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Carence en vitamine B12 : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-03-25",
"dateModified": "2025-03-20",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Carence en vitamine B12"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Carence en vitamines B",
"url": "https://questionsmedicales.fr/mesh/D014804",
"about": {
"@type": "MedicalCondition",
"name": "Carence en vitamines B",
"code": {
"@type": "MedicalCode",
"code": "D014804",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C18.654.521.500.133.699"
}
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Anémie pernicieuse",
"alternateName": "Anemia, Pernicious",
"url": "https://questionsmedicales.fr/mesh/D000752",
"about": {
"@type": "MedicalCondition",
"name": "Anémie pernicieuse",
"code": {
"@type": "MedicalCode",
"code": "D000752",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C18.654.521.500.133.699.923.280"
}
}
}
],
"about": {
"@type": "MedicalCondition",
"name": "Carence en vitamine B12",
"alternateName": "Vitamin B 12 Deficiency",
"code": {
"@type": "MedicalCode",
"code": "D014806",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Dorota Gryko",
"url": "https://questionsmedicales.fr/author/Dorota%20Gryko",
"affiliation": {
"@type": "Organization",
"name": "Institute of Organic Chemistry, Polish Academy of Sciences, Warsaw, Poland. dorota.gryko@icho.edu.pl."
}
},
{
"@type": "Person",
"name": "Jacob Selhub",
"url": "https://questionsmedicales.fr/author/Jacob%20Selhub",
"affiliation": {
"@type": "Organization",
"name": ""
}
},
{
"@type": "Person",
"name": "Setareh Shahab-Ferdows",
"url": "https://questionsmedicales.fr/author/Setareh%20Shahab-Ferdows",
"affiliation": {
"@type": "Organization",
"name": "Department of Agriculture, Agricultural Research Service, Western Human Nutrition Research Center, Davis, CA, United States."
}
},
{
"@type": "Person",
"name": "Daniela Hampel",
"url": "https://questionsmedicales.fr/author/Daniela%20Hampel",
"affiliation": {
"@type": "Organization",
"name": "Department of Agriculture, Agricultural Research Service, Western Human Nutrition Research Center, Davis, CA, United States; Department of Nutrition, University of California, Davis, CA, United States."
}
},
{
"@type": "Person",
"name": "Lindsay H Allen",
"url": "https://questionsmedicales.fr/author/Lindsay%20H%20Allen",
"affiliation": {
"@type": "Organization",
"name": "Department of Agriculture, Agricultural Research Service, Western Human Nutrition Research Center, Davis, CA, United States."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Maternal Mental Health in Late Pregnancy and Longitudinal Changes in Postpartum Serum Vitamin B-12, Homocysteine, and Milk B-12 Concentration Among Brazilian Women.",
"datePublished": "2022-07-11",
"url": "https://questionsmedicales.fr/article/35898719",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3389/fnut.2022.923569"
}
},
{
"@type": "ScholarlyArticle",
"name": "'From metabolism to metabolism': holistic considerations on B-vitamin interactions, biofortification, and deficiencies.",
"datePublished": "2024-04-25",
"url": "https://questionsmedicales.fr/article/38669731",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.copbio.2024.103132"
}
},
{
"@type": "ScholarlyArticle",
"name": "Maternal Vitamin B12 Status during Pregnancy and Early Infant Neurodevelopment: The ECLIPSES Study.",
"datePublished": "2023-03-22",
"url": "https://questionsmedicales.fr/article/36986259",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/nu15061529"
}
},
{
"@type": "ScholarlyArticle",
"name": "Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.",
"datePublished": "2022-08-09",
"url": "https://questionsmedicales.fr/article/35945620",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1186/s13023-022-02453-z"
}
},
{
"@type": "ScholarlyArticle",
"name": "Patient safety, self-injection, and B12 deficiency: a UK cross-sectional survey.",
"datePublished": "2022-11-24",
"url": "https://questionsmedicales.fr/article/36192360",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3399/BJGP.2021.0711"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Maladies métaboliques et nutritionnelles",
"item": "https://questionsmedicales.fr/mesh/D009750"
},
{
"@type": "ListItem",
"position": 3,
"name": "Troubles nutritionnels",
"item": "https://questionsmedicales.fr/mesh/D009748"
},
{
"@type": "ListItem",
"position": 4,
"name": "Malnutrition",
"item": "https://questionsmedicales.fr/mesh/D044342"
},
{
"@type": "ListItem",
"position": 5,
"name": "Maladies de carence",
"item": "https://questionsmedicales.fr/mesh/D003677"
},
{
"@type": "ListItem",
"position": 6,
"name": "Avitaminoses",
"item": "https://questionsmedicales.fr/mesh/D001361"
},
{
"@type": "ListItem",
"position": 7,
"name": "Carence en vitamines B",
"item": "https://questionsmedicales.fr/mesh/D014804"
},
{
"@type": "ListItem",
"position": 8,
"name": "Carence en vitamine B12",
"item": "https://questionsmedicales.fr/mesh/D014806"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Carence en vitamine B12 - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Carence en vitamine B12",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-12",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Carence en vitamine B12",
"description": "Comment diagnostiquer une carence en vitamine B12 ?\nQuels tests sont utilisés pour confirmer la carence ?\nQuels signes cliniques indiquent une carence ?\nLa carence en B12 peut-elle être asymptomatique ?\nQuel rôle joue l'historique médical dans le diagnostic ?",
"url": "https://questionsmedicales.fr/mesh/D014806?page=8#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Carence en vitamine B12",
"description": "Quels sont les symptômes courants de la carence en B12 ?\nLa carence en B12 peut-elle causer des problèmes neurologiques ?\nComment la carence affecte-t-elle la peau ?\nY a-t-il des symptômes digestifs associés ?\nLes symptômes varient-ils selon l'âge ?",
"url": "https://questionsmedicales.fr/mesh/D014806?page=8#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Carence en vitamine B12",
"description": "Comment prévenir la carence en vitamine B12 ?\nLes personnes âgées doivent-elles prendre des suppléments ?\nLes végétaliens peuvent-ils éviter la carence ?\nLes tests réguliers sont-ils recommandés ?\nLes maladies digestives augmentent-elles le risque ?",
"url": "https://questionsmedicales.fr/mesh/D014806?page=8#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Carence en vitamine B12",
"description": "Comment traiter une carence en vitamine B12 ?\nQuelle est la durée du traitement ?\nLes aliments peuvent-ils aider à corriger la carence ?\nLes personnes végétariennes sont-elles à risque ?\nLes traitements sont-ils différents pour les enfants ?",
"url": "https://questionsmedicales.fr/mesh/D014806?page=8#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Carence en vitamine B12",
"description": "Quelles complications peuvent survenir ?\nLa carence peut-elle entraîner des problèmes cognitifs ?\nY a-t-il un risque accru de maladies cardiovasculaires ?\nLes complications sont-elles réversibles ?\nLa carence en B12 peut-elle affecter la grossesse ?",
"url": "https://questionsmedicales.fr/mesh/D014806?page=8#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Carence en vitamine B12",
"description": "Qui est le plus à risque de carence en B12 ?\nLes maladies auto-immunes augmentent-elles le risque ?\nLes médicaments peuvent-ils influencer le risque ?\nLes troubles digestifs sont-ils un facteur de risque ?\nLes antécédents familiaux jouent-ils un rôle ?",
"url": "https://questionsmedicales.fr/mesh/D014806?page=8#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostiquer une carence en vitamine B12 ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un diagnostic se fait par des analyses sanguines mesurant les niveaux de vitamine B12."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour confirmer la carence ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent la mesure de la vitamine B12, de l'homocystéine et de la méthylmalonyl-CoA."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent une carence ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des signes comme l'anémie, la fatigue, et des troubles neurologiques peuvent indiquer une carence."
}
},
{
"@type": "Question",
"name": "La carence en B12 peut-elle être asymptomatique ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines personnes peuvent avoir une carence sans présenter de symptômes visibles."
}
},
{
"@type": "Question",
"name": "Quel rôle joue l'historique médical dans le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'historique médical aide à identifier des facteurs de risque comme des troubles d'absorption."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes courants de la carence en B12 ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent fatigue, faiblesse, engourdissements et troubles de l'humeur."
}
},
{
"@type": "Question",
"name": "La carence en B12 peut-elle causer des problèmes neurologiques ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle peut entraîner des troubles neurologiques comme des démences ou des neuropathies."
}
},
{
"@type": "Question",
"name": "Comment la carence affecte-t-elle la peau ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle peut provoquer des changements cutanés comme une pâleur ou des lésions cutanées."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes digestifs associés ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des symptômes comme des nausées, des diarrhées ou des troubles digestifs peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent être plus prononcés chez les personnes âgées en raison de l'absorption réduite."
}
},
{
"@type": "Question",
"name": "Comment prévenir la carence en vitamine B12 ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée incluant des sources de B12 et des suppléments si nécessaire aide."
}
},
{
"@type": "Question",
"name": "Les personnes âgées doivent-elles prendre des suppléments ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes âgées peuvent avoir besoin de suppléments en raison d'une absorption réduite."
}
},
{
"@type": "Question",
"name": "Les végétaliens peuvent-ils éviter la carence ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils doivent prendre des suppléments de B12 ou consommer des aliments enrichis pour éviter la carence."
}
},
{
"@type": "Question",
"name": "Les tests réguliers sont-ils recommandés ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des tests réguliers sont conseillés pour les personnes à risque de carence."
}
},
{
"@type": "Question",
"name": "Les maladies digestives augmentent-elles le risque ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des maladies comme la maladie de Crohn peuvent affecter l'absorption de la vitamine B12."
}
},
{
"@type": "Question",
"name": "Comment traiter une carence en vitamine B12 ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement inclut des suppléments oraux ou des injections de vitamine B12 selon la gravité."
}
},
{
"@type": "Question",
"name": "Quelle est la durée du traitement ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La durée dépend de la gravité, mais peut durer de quelques mois à plusieurs années."
}
},
{
"@type": "Question",
"name": "Les aliments peuvent-ils aider à corriger la carence ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, consommer des aliments riches en B12 comme la viande, le poisson et les produits laitiers aide."
}
},
{
"@type": "Question",
"name": "Les personnes végétariennes sont-elles à risque ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent être à risque en raison d'un apport alimentaire limité en vitamine B12."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils différents pour les enfants ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements sont similaires, mais les doses peuvent varier selon l'âge et le poids."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent l'anémie mégaloblastique, des troubles neurologiques et des problèmes cardiaques."
}
},
{
"@type": "Question",
"name": "La carence peut-elle entraîner des problèmes cognitifs ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une carence prolongée peut causer des troubles cognitifs et des pertes de mémoire."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies cardiovasculaires ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une carence en B12 peut augmenter le risque de maladies cardiovasculaires en élevant l'homocystéine."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être réversibles avec un traitement approprié, d'autres non."
}
},
{
"@type": "Question",
"name": "La carence en B12 peut-elle affecter la grossesse ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle peut entraîner des complications pendant la grossesse, comme des malformations congénitales."
}
},
{
"@type": "Question",
"name": "Qui est le plus à risque de carence en B12 ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les personnes âgées, les végétariens, et ceux ayant des troubles d'absorption sont à risque."
}
},
{
"@type": "Question",
"name": "Les maladies auto-immunes augmentent-elles le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des maladies comme la gastrite atrophique peuvent affecter l'absorption de la B12."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils influencer le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments comme les inhibiteurs de la pompe à protons peuvent réduire l'absorption."
}
},
{
"@type": "Question",
"name": "Les troubles digestifs sont-ils un facteur de risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles comme la maladie cœliaque peuvent nuire à l'absorption de la vitamine B12."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux jouent-ils un rôle ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de carence peuvent augmenter le risque chez certains individus."
}
}
]
}
]
}
Little is known regarding the association between mental health distress during pregnancy and postpartum maternal serum biomarkers of vitamin B-12 status and milk B-12 concentration....
To evaluate the association between depressive and anxiety symptoms in the third trimester of pregnancy and changes in postpartum serum B-12, homocysteine, and B-12 milk concentration....
A total of 101 women (18-40 years) were studied in a prospective cohort with data at the third trimester of pregnancy (baseline) and three postpartum time-points (TPs): 2-8 days (TP1), 28-50 days (TP2...
The prevalence of depressive and anxiety state symptoms was 35.6 and 39.6% at baseline. High prevalence of low milk B-12 concentration (<310 pmol/L) were observed at TP1 (53.2%), TP2 (71.4%), and TP3 ...
Anxiety symptoms at the end of pregnancy were associated with longitudinal changes in maternal serum homocysteine concentrations during the first 3 months postpartum....
In the post-Green Revolution era, disparities in dietary access, rising obesity rates, demographic shifts, adoption of plant-based diets, and the impact of climate change collectively contribute to a ...
In this prospective cohort study of 434 mother-infant pairs from the ECLIPSES study, we examine the association between maternal vitamin B12 status at the beginning and end of pregnancy and the neurod...
Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute or subacute severe bilateral central vision loss. Vitamin B12 deficiency is also a kno...
From the Munich LHON prospective cohort study, participants included all LHON patients and asymptomatic LHON mutation carriers, who were recruited between February 2014 and March 2020 and consented to...
We analyzed 244 subjects, including 147 symptomatic LHON patients (74% males) and 97 asymptomatic mutation carriers (31% males). Median age at study baseline was 34 years (range 5-82 years). The preva...
The high prevalence of vitamin B12 deficiency in LHON mutation carriers, both asymptomatic mutation carriers and LHON patients, highlights the need for regular vitamin B12 screening in this population...
Individuals with vitamin B12 deficiency (including pernicious anaemia) often report being 'let down' or stigmatised by general practice systems and policy, and choose instead to self-medicate via inje...
To examine the association between self-medication for vitamin B12 deficiency and patient-reported safety in primary care....
A UK cross-sectional online survey....
The survey consisted of the three components: demographics; the validated Primary Care Patient Measure of Safety; and questions about self-medication for vitamin B12 deficiency. Multivariable logistic...
Responses from 1297 participants indicated 508 (39.2%) self-medicated via injection. Perceived primary care safety was low. Those who self-medicated via injection reported a significantly lower level ...
To the authors' knowledge, this is the largest study to date examining patient safety and vitamin B12 deficiency. It found that four out of 10 patients with B12 deficiency self-medicate via injection....
Background: Little is known about variation in vitamin B12 and folate status among Chinese women 2 years postpartum. This study assessed intake of vitamin B12 and folate and biomarkers of nutrient sta...
There is limited literature in children on efficacy of different routes of vitamin B12 administration for vitamin B12 deficiency macrocytic-megaloblastic anemia....
To compare parenteral with oral vitamin B12 therapy in children with macrocytic-megaloblastic anemia....
Single-center, open-label randomized controlled trial....
80 children aged 2 month-18 year with clinical and laboratory features of nutritional macrocytic anemia....
All children received an initial single parenteral dose of 1000 µg vitamin B12 followed by randomization to either parenteral or oral vitamin B12 for subsequent doses. Group A was given 1000 µg intram...
Improvement in serum vitamin B12 levels and total hemoglobin was compared three months post-treatment....
The median(IQR) increase in serum vitamin B12 level was significantly higher in group A [600 (389,775) vs 399 (313, 606) pg/mL; P= 0.016]. The median (IQR) rise of hemoglobin was also more in group A ...
Increase in serum vitamin B12 levels and hemoglobin was better in children with nutritional macrocytic anemia receiving parenteral as compared to oral vitamin B12....
Betaine is an "alternate" methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been u...
We compared 2 betaine doses (100 mg/kg/day vs. 250 mg/kg/day) in children affected by pnrCBS or cblC deficiencies. We also measured the pharmacokinetics parameters after a single dose of betaine (100 ...
We conducted a prospective, randomized, crossover clinical trial with blinded evaluation. The primary outcome was the equivalence of total plasma homocysteine (tHcy) concentrations upon one-month oral...
Eleven patients completed the study (5 pnrCBS and 6 cblC). tHcy concentrations were equivalent after a one-month treatment period for the two betaine dosages. Multivariate analysis showed a significan...
Our analysis shows that there is no overt benefit to increasing betaine dosage higher than 100 mg/kg/day to lower tHcy concentrations in pnrCBS and cblC deficiencies. However, increasing betaine up to...
Clinical Trials, NCT02404337. Registered 23 May 2015-prospectively registered, https://clinicaltrials.gov ....
Vitamin B12 is inextricably associated with the development and maintenance of neuronal functions. It is classically associated with subacute combined degeneration and peripheral neuropathy; however, ...
Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS acti...
We present here a female patient with developmental delay, microcephaly, hypotonia, nystagmus, and seizure in which a distinct brain MRI and CT showed restricted diffusion in the bilateral parietal an...
We have added novel knowledge which is nystagmus and hypotonia in the clinical findings, the involvement and restriction of bilateral putamen, globus pallidus, parietal and occipital lobes, and calcif...
