Literature DB >> 16286426

Characteristic MR imaging changes in severe hypermethioninemic states.

Nancy E Braverman, S Harvey Mudd, Peter B Barker, Martin G Pomper.   

Abstract

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Year:  2005        PMID： 16286426      PMCID： PMC7976189     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


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  4 in total

1.  Reversible white matter lesion in methionine adenosyltransferase I/III deficiency.

Authors:  Hiroko Tada; Jun-ichi Takanashi; A James Barkovich; Shigenori Yamamoto; Yoichi Kohno
Journal:  AJNR Am J Neuroradiol       Date:  2004 Nov-Dec       Impact factor: 3.825

2.  Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency.

Authors:  Sally P Stabler; Clemens Steegborn; Markus C Wahl; Jana Oliveriusova; Jan P Kraus; Robert H Allen; Conrad Wagner; S Harvey Mudd
Journal:  Metabolism       Date:  2002-08       Impact factor: 8.694

3.  Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.

Authors:  S Harvey Mudd; Nancy Braverman; Martin Pomper; Kamer Tezcan; Jonathan Kronick; Parul Jayakar; Cheryl Garganta; Mary G Ampola; Harvey L Levy; Shawn E McCandless; Hobart Wiltse; Sally P Stabler; Robert H Allen; Conrad Wagner; Marlene W Borschel
Journal:  Mol Genet Metab       Date:  2003-05       Impact factor: 4.797

4.  Cerebral edema associated with betaine treatment in classical homocystinuria.

Authors:  A M Devlin; L Hajipour; A Gholkar; H Fernandes; V Ramesh; A A M Morris
Journal:  J Pediatr       Date:  2004-04       Impact factor: 4.406
  4 in total
  10 in total

1.  Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.

Authors:  Charles Q Li; Bruce A Barshop; Annette Feigenbaum; Paritosh C Khanna
Journal:  J Radiol Case Rep       Date:  2018-01-31

2.  Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

Authors:  Ivo Barić; Sahin Erdol; Halil Saglam; Mila Lovrić; Robert Belužić; Oliver Vugrek; Henk J Blom; Ksenija Fumić
Journal:  JIMD Rep       Date:  2016-05-21

3.  MRI and (1)H-MRS in adenosine kinase deficiency.

Authors:  C Staufner; H J Blom; C Dionisi-Vici; P Freisinger; N Makhseed; D Ballhausen; S Kölker; G F Hoffmann; I Harting
Journal:  Neuroradiology       Date:  2016-03-18       Impact factor: 2.804

4.  Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

Authors:  M L Couce; M D Bóveda; D E Castiñeiras; F J Corrales; M I Mora; J M Fraga; S H Mudd
Journal:  J Inherit Metab Dis       Date:  2008-05-20       Impact factor: 4.982

Review 5.  Inherited disorders in the conversion of methionine to homocysteine.

Authors:  Ivo Barić
Journal:  J Inherit Metab Dis       Date:  2009-07-07       Impact factor: 4.982

6.  Clinical utility of methionine restriction in adenosine kinase deficiency.

Authors:  Najmah Almuhsen; Simon-Pierre Guay; Marie Lefrancois; Cheryl Gauvin; Al Qasim Al Bahlani; Najma Ahmed; Christine Saint-Martin; Tommy Gagnon; Paula Waters; Nancy Braverman; D Buhas
Journal:  JIMD Rep       Date:  2021-07-27

7.  Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening.

Authors:  Vanessa Hübner; Luciana Hannibal; Nils Janzen; Sarah Catharina Grünert; Peter Freisinger
Journal:  Genes (Basel)       Date:  2022-06-27       Impact factor: 4.141

Review 8.  Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Authors:  Yin-Hsiu Chien; Jose E Abdenur; Federico Baronio; Allison Anne Bannick; Fernando Corrales; Maria Couce; Markus G Donner; Can Ficicioglu; Cynthia Freehauf; Deborah Frithiof; Garrett Gotway; Koichi Hirabayashi; Floris Hofstede; George Hoganson; Wuh-Liang Hwu; Philip James; Sook Kim; Stanley H Korman; Robin Lachmann; Harvey Levy; Martin Lindner; Lilia Lykopoulou; Ertan Mayatepek; Ania Muntau; Yoshiyuki Okano; Kimiyo Raymond; Estela Rubio-Gozalbo; Sabine Scholl-Bürgi; Andreas Schulze; Rani Singh; Sally Stabler; Mary Stuy; Janet Thomas; Conrad Wagner; William G Wilson; Saskia Wortmann; Shigenori Yamamoto; Maryland Pao; Henk J Blom
Journal:  Orphanet J Rare Dis       Date:  2015-08-20       Impact factor: 4.123

Review 9.  Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

Authors:  Ivo Barić; Christian Staufner; Persephone Augoustides-Savvopoulou; Yin-Hsiu Chien; Dries Dobbelaere; Sarah C Grünert; Thomas Opladen; Danijela Petković Ramadža; Bojana Rakić; Anna Wedell; Henk J Blom
Journal:  J Inherit Metab Dis       Date:  2016-09-26       Impact factor: 4.982

10.  Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

Authors:  Bernd C Schwahn; Thomas Scheffner; Hedwig Stepman; Peter Verloo; Anibh M Das; Janice Fletcher; Henk J Blom; Jean-Francois Benoist; Bruce A Barshop; Jaime J Barea; Annette Feigenbaum
Journal:  JIMD Rep       Date:  2020-01-08
  10 in total

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