Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review

Additional value of fetal magnetic resonance imaging in the prenatal diagnosis of central nervous system anomalies: a systematic review of the literature

(2014) A. C. Rossi et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

A 2-Month-Old Boy with Desquamative Skin Fold Dermatitis

(2013) Andrea Bassi et al.   JOURNAL OF PEDIATRICS

Customised assessment of fetal growth potential: implications for perinatal care

(2012) Jason Gardosi   Archives of Disease in Childhood-Fetal and Neonatal Edition

Neonatal outcome of congenital ventriculomegaly

(2012) Liz McKechnie et al.   Seminars in Fetal & Neonatal Medicine

Infantile Periorificial and Intertriginous Dermatitis Preceding Sepsis-Like Respiratory Failure

(2011) Edward M. Esparza et al.   PEDIATRIC DERMATOLOGY

The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient

(2011) Joannie Hui et al.   World Journal of Pediatrics

Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency

(2010) Liza Squires et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Routine TORCH screening is not warranted in neonates with subependymal cysts

(2010) S. van der Weiden et al.   EARLY HUMAN DEVELOPMENT

A Prospective Study of Fetuses with Isolated Ventriculomegaly Investigated by Antenatal Sonography and In Utero MR Imaging

(2009) P.D. Griffiths et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Diagnostic value of subependymal pseudocysts and choroid plexus cysts on neonatal cerebral ultrasound: a meta-analysis

(2009) J R Fernandez Alvarez et al.   Archives of Disease in Childhood-Fetal and Neonatal Edition

A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy

(2009) Kyoko Yokoi et al.   BRAIN & DEVELOPMENT

Holocarboxylase synthetase deficiency: novel clinical and molecular findings

(2009) R Tammachote et al.   CLINICAL GENETICS

Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency

(2008) Lisa M. Bailey et al.   HUMAN MUTATION

Management of a patient with holocarboxylase synthetase deficiency

(2008) Johan L.K. Van Hove et al.   MOLECULAR GENETICS AND METABOLISM