Supporting record
Author not available in indexed metadata · Nutrition reviews · 1984
Indexed case report; abstract unavailable. The indexed record verifies the publication and citation, but supplies no abstract. A quantitative effect or complete treatment result is not established from this record alone.
Original sources: DOI · PubMed
Supporting record
N J Benevenga · The New England journal of medicine · 1984
Indexed letter or commentary; abstract unavailable. The indexed record verifies the publication and citation, but supplies no abstract. A quantitative effect or complete treatment result is not established from this record alone.
Original sources: DOI · PubMed
Tier 4
D E Wilcken et al. · The New England journal of medicine · 1983
Clinical case series. All patients had substantial homocysteine reductions; several also showed early clinical improvement.
Original sources: DOI · PubMed
Tier 2
D E Wilcken et al. · Metabolism: clinical and experimental · 1985
Before-and-after metabolic study. Betaine brought exaggerated post-load homocysteine responses closer to normal, with variable methionine changes.
Original sources: DOI · PubMed
Tier 4
U Wendel et al. · European journal of pediatrics · 1984
Case report. Homocysteine fell markedly, methionine normalized and some clinical improvement occurred, while developmental impairment persisted.
Original sources: DOI · PubMed
Tier 4
E Holme et al. · Archives of disease in childhood · 1989
Case report. The report describes substantial recovery from rapidly progressive encephalopathy and myopathy after treatment.
Original sources: DOI · PubMed · Full text
Supporting record
L A Smolin et al. · The Journal of pediatrics · 1981
Indexed case report; abstract unavailable. The indexed record verifies the publication and citation, but supplies no abstract. A quantitative effect or complete treatment result is not established from this record alone.
Original sources: DOI · PubMed
Tier 4
E Ronge et al. · Archives of disease in childhood · 1996
Long-term case report. Methionine remained in the normal range and homocysteine moderately elevated; developmental and visual difficulties persisted.
Original sources: DOI · PubMed · Full text
Supporting record
Kyoko Yokoi et al. · Pediatrics international : official journal of the Japan Pediatric Society · 2008
Indexed case report; abstract unavailable. The indexed record verifies the publication and citation, but supplies no abstract. A quantitative effect or complete treatment result is not established from this record alone.
Original sources: DOI · PubMed
Supporting record
Germaine Pierre et al. · Journal of inherited metabolic disease · 2006
Indexed case report; abstract unavailable. The indexed record verifies the publication and citation, but supplies no abstract. A quantitative effect or complete treatment result is not established from this record alone.
Original sources: DOI · PubMed
Tier 4
T Kishi et al. · Journal of inherited metabolic disease · 1994
Case report. Gait and muscle symptoms improved, and cerebrospinal-fluid SAM rose from undetectable to approximately normal levels.
Original sources: DOI · PubMed
Supporting record
Halvard Bönig et al. · European journal of pediatrics · 2003
Indexed case report; abstract unavailable. The indexed record verifies the publication and citation, but supplies no abstract. A quantitative effect or complete treatment result is not established from this record alone.
Original sources: DOI · PubMed
Tier 2
Martina Huemer et al. · Journal of inherited metabolic disease · 2017
Clinical practice guideline. Early treatment is emphasized; betaine is recommended for severe MTHFR deficiency, while cobalamin-related defects require appropriate B12-based therapy.
Original sources: DOI · PubMed · Full text
Tier 4
Andrew A M Morris et al. · Journal of inherited metabolic disease · 2025
Observational registry analysis. Many nonresponsive or partially responsive patients remained above homocysteine targets. Earlier detection and treatment were associated with fewer major complications.
Original sources: DOI · PubMed · Full text
Tier 4
Tarun Kumar et al. · Clinica chimica acta; international journal of clinical chemistry · 2016
Narrative review. Reviews betaine alongside dietary restriction, vitamin therapy and experimental molecular treatments.
Original sources: DOI · PubMed
Tier 4
Adam Gerrard et al. · Journal of clinical pathology · 2022
Clinical narrative review. Distinguishes CBS deficiency from remethylation disorders and explains why betaine, diet and B12 have different roles across diagnoses.
Original sources: DOI · PubMed
Tier 4
Ayman A Althubity · Molecular medicine reports · 2026
Narrative review. Summarizes the limitations of existing care and the development of metabolic and molecular therapies.
Original sources: DOI · PubMed · Full text
Tier 4
C Montero Brens et al. · Anales espanoles de pediatria · 1993
Clinical case series. Adding betaine produced further biochemical control after a partial vitamin response; no major organ toxicity was reported in this small series.
Original sources: PubMed
Supporting record
Eri Nishimoto et al. · Pediatrics international : official journal of the Japan Pediatric Society · 2019
Indexed case report; abstract unavailable. The indexed record verifies the publication and citation, but supplies no abstract. A quantitative effect or complete treatment result is not established from this record alone.
Original sources: DOI · PubMed