Publications:

---

Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report.

Medicine International

Ding, Yuan Y; Wang, Qiao Q; Gong, Chun-Xiu CX

Publication Date: 2022

Variant appearance in text: MTHFR: 1530G>A; K510K; rs765586205

PubMed Link: 36699103

Variant Present in the following documents:

• Main text
• Supplementary_Data.pdf
• mi-02-02-00037.pdf

View BVdb publication page

---

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: MTHFR: 1530G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Shifting landscapes of human MTHFR missense-variant effects.

American Journal Of Human Genetics

Weile, Jochen J; Kishore, Nishka N; Sun, Song S; Maaieh, Ranim R; Verby, Marta M; Li, Roujia R; Fotiadou, Iosifina I; Kitaygorodsky, Julia J; Wu, Yingzhou Y; Holenstein, Alexander A; Bürer, Céline C; Blomgren, Linnea L; Yang, Shan S; Nussbaum, Robert R; Rozen, Rima R; Watkins, David D; Gebbia, Marinella M; Kozich, Viktor V; Garton, Michael M; Froese, D Sean DS; Roth, Frederick P FP

Publication Date: 2021-07-01

Variant appearance in text: MTHFR: 1530G>A; Lys510=

PubMed Link: 34214447

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

---

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.

Plos One

Martínez-Pizarro, Ainhoa A; Desviat, Lourdes R LR; Ugarte, Magdalena M; Pérez, Belén B; Richard, Eva E

Publication Date: 2016

Variant appearance in text: MTHFR: 1530G>A

PubMed Link: 26959487

Variant Present in the following documents:

• Main text
• pone.0150357.pdf

View BVdb publication page

---

Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

Jimd Reports

Knowles, L L; Morris, A A M AA; Walter, J H JH

Publication Date: 2016

Variant appearance in text: MTHFR: 1530G>A

PubMed Link: 26898294

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Journal Of Inherited Metabolic Disease

Huemer, Martina M; Mulder-Bleile, Regina R; Burda, Patricie P; Froese, D Sean DS; Suormala, Terttu T; Zeev, Bruria Ben BB; Chinnery, Patrick F PF; Dionisi-Vici, Carlo C; Dobbelaere, Dries D; Gökcay, Gülden G; Demirkol, Mübeccel M; Häberle, Johannes J; Lossos, Alexander A; Mengel, Eugen E; Morris, Andrew A AA; Niezen-Koning, Klary E KE; Plecko, Barbara B; Parini, Rossella R; Rokicki, Dariusz D; Schiff, Manuel M; Schimmel, Mareike M; Sewell, Adrian C AC; Sperl, Wolfgang W; Spiekerkoetter, Ute U; Steinmann, Beat B; Taddeucci, Grazia G; Trejo-Gabriel-Galán, Jose M JM; Trefz, Friedrich F; Tsuji, Megumi M; Vilaseca, María Antònia MA; von Kleist-Retzow, Jürgen-Christoph JC; Walker, Valerie V; Zeman, Jiri J; Baumgartner, Matthias R MR; Fowler, Brian B

Publication Date: 2016-01

Variant appearance in text: MTHFR: Lys510=

PubMed Link: 26025547

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders.

Jimd Reports

Broomfield, A A; Abulhoul, L L; Pitt, W W; Jameson, E E; Cleary, M M

Publication Date: 2014

Variant appearance in text: MTHFR: 1530G>A

PubMed Link: 24997712

Variant Present in the following documents:

• Main text

View BVdb publication page

---