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Author/Creator Broomfield, Alexander

1. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. Issue 11 (3rd May 2017)

Authors:
Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E; Bassett, John K; Cartwright, Eleanor; Bhaskar, Sanjeev S; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew AM; Jameson, Elisabeth; Schwahn, Bernd C; Walter, John H; Douzgou, Sofia; Murphy, Helen; Hendriksz, Chris; Sharma, Reena; Wilco...
Journal:
Archives of disease in childhood
Issue:
Volume 102:Issue 11(2017)
Page Start:
1019
Record Type:
Journal Article
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2. Erratum to: TMEM70 deficiency: long‐term outcome of 48 patients. Issue 3 (17th March 2015)

Authors:
Magner, Martin; Dvorakova, Veronika; Tesarova, Marketa; Mazurova, Stella; Hansikova, Hana; Zahorec, Martin; Brennerova, Katarina; Bzduch, Vladimir; Spiegel, Ronen; Horovitz, Yoseph; Mandel, Hanna; Eminoğlu, Fatma Tuba; Mayr, Johannes Adalbert; Koch, Johannes; Martinelli, Diego; Bertini, Enrico; K...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 3(2015)
Page Start:
583
Record Type:
Journal Article
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3. Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Issue 3 (1st March 2017)

Authors:
Baruteau, Julien; Jameson, Elisabeth; Morris, Andrew A.; Chakrapani, Anupam; Santra, Saikat; Vijay, Suresh; Kocadag, Huriye; Beesley, Clare E.; Grunewald, Stephanie; Murphy, Elaine; Cleary, Maureen; Mundy, Helen; Abulhoul, Lara; Broomfield, Alexander; Lachmann, Robin; Rahman, Yusof; Robinson, Pet...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 3(2017)
Page Start:
357
Record Type:
Journal Article
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5. International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. (23rd October 2018)

Authors:
Parini, Rossella; Broomfield, Alexander; Cleary, Maureen A.; De Meirleir, Linda; Di Rocco, Maja; Fathalla, Waseem M.; Guffon, Nathalie; Lampe, Christina; Lund, Allan M.; Scarpa, Maurizio; Tylki‐Szymańska, Anna; Zeman, Jiří
Journal:
Acta pædiatrica
Issue:
Volume 107:Number 12(2018)
Page Start:
2059
Record Type:
Journal Article
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6. Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation. Issue 3 (10th March 2017)

Authors:
Lum, Su Han; Stepien, Karolina M.; Ghosh, Arunabha; Broomfield, Alexander; Church, Heather; Mercer, Jean; Jones, Simon; Wynn, Robert
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 3(2017)
Page Start:
455
Record Type:
Journal Article
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7. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. Issue 3 (29th October 2014)

Authors:
Broomfield, Alexander; Sweeney, Mary G.; Woodward, Cathy E.; Fratter, Carl; Morris, Andrew M.; Leonard, James V.; Abulhoul, Lara; Grunewald, Stephanie; Clayton, Peter T.; Hanna, Michael G.; Poulton, Joanna; Rahman, Shamima
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 3(2015)
Page Start:
445
Record Type:
Journal Article
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8. TMEM70 deficiency: long‐term outcome of 48 patients. Issue 3 (18th October 2014)

Authors:
Magner, Martin; Dvorakova, Veronika; Tesarova, Marketa; Mazurova, Stella; Hansikova, Hana; Zahorec, Martin; Brennerova, Katarina; Bzduch, Vladimir; Spiegel, Ronen; Horovitz, Yoseph; Mandel, Hanna; Eminoğlu, Fatma Tuba; Mayr, Johannes Adalbert; Koch, Johannes; Martinelli, Diego; Bertini, Enrico; K...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 3(2015)
Page Start:
417
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗