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Recommendations from a consensus development workshop on the diagnosis of fetal alcohol spectrum disorders in Australia
Rochelle E Watkins, Elizabeth J Elliott, Amanda Wilkins, Raewyn C Mutch, James P Fitzpatrick, Janet M Payne, Colleen M O¿Leary, Heather M Jones, Jane Latimer, Lorian Hayes, Jane Halliday, Heather D¿Antoine, Sue Miers, Elizabeth Russell, Lucinda Burns, Anne McKenzie, Elizabeth Peadon, Maureen Carter, Carol Bower BMC Pediatrics 2013, 13:156 (2 October 2013)
Abstract | Provisional PDF
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2.
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The impact of severe osteogenesis imperfecta on the lives of young patients and their parents -- a qualitative analysis
Maman Joyce Dogba, Christophe Bedos, Michaela Durigova, Kathleen Montpetit, Trudy Wong, Francis H Glorieux, Frank Rauch BMC Pediatrics 2013, 13:153 (30 September 2013)
Abstract | Provisional PDF
| PubMed
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3.
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Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient
Lee-Moay Lim, Jer-Ming Chang, I-Fang Wang, Wei-Chiao Chang, Daw-Yang Hwang, Hung-Chun Chen BMC Pediatrics 2013, 13:150 (27 September 2013)
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| PubMed
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4.
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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
Amy Farmer, Ségolène Aymé, Miguel de Heredia, Pietro Maffei, Susan McCafferty, Wojciech Młynarski, Virginia Nunes, Kay Parkinson, Véronique Paquis-Flucklinger, Julia Rohayem, Richard Sinnott, Vallo Tillmann, Lisbeth Tranebjærg, Timothy G Barrett BMC Pediatrics 2013, 13:130 (27 August 2013)
Abstract | Full text | PDF
| ePUB | PubMed | Cited on BioMed Central
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Study protocol: precision of a protocol for manual intramuscular needle placement checked by passive stretching and relaxing of the target muscle in the lower extremity during BTX-A treatment in children with spastic cerebral palsy, as verified by means of electrical stimulation
Jessica Warnink-Kavelaars, Roland Vermeulen, Jules Becher BMC Pediatrics 2013, 13:129 (22 August 2013)
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The mystery of persistent pulmonary hypertension: an idiopathic infantile arterial calcification
Huma Shaireen, Alexandra Howlett, Harish Amin, Kamran Yusuf, Majeeda Kamaluddeen, Abhay Lodha BMC Pediatrics 2013, 13:107 (16 July 2013)
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A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment
Monika Obara-Moszynska, Jaroslaw Maceluch, Waldemar Bobkowski, Artur Baszko, Oskar Jaremba, Maciej R Krawczynski, Marek Niedziela BMC Pediatrics 2013, 13:27 (20 February 2013)
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| PubMed
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Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM)
Anna Materna-Kiryluk, Aleksander Jamsheer, Katarzyna Wisniewska, Barbara Wieckowska, Janusz Limon, Maria Borszewska-Kornacka, Henryka Sawulicka-Oleszczuk, Ewa Szwalkiewicz-Warowicka, Anna Latos-Bielenska BMC Pediatrics 2013, 13:26 (19 February 2013)
Abstract | Full text | PDF
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Editor’s summary
Isolated cases of Preaxial Polydactyly Type I (PPD1) occur more frequently in children with lower birth order and birth weight, suggesting that non-genetic factors play an important role in the etiology of non-familial PPD1. |
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9.
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Lymphocyte respiration in children with Trisomy 21
Elhadi H Aburawi, Abdul-Kader Souid BMC Pediatrics 2012, 12:193 (18 December 2012)
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10.
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The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation
Gregorio León-García, Alfredo Santana, Nicolás Villegas-Sepúlveda, Concepción Pérez-González, José M Henrríquez-Esquíroz, Carlota de León-García, Carlos Wong, Isabel Baeza BMC Pediatrics 2012, 12:150 (19 September 2012)
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Editor’s summary
The novel T1048I mutation affecting the catalytic site of the ATP7A protein results in an unusual Menkes disease presentation that is responsive to copper-histidinate treatment, suggesting that this mutation does not result in a complete loss of function of the protein.
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