James D. Weisfeld‐Adams

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

James D. Weisfeld‐Adams, Mark A. Morrissey, Brian Kirmse et al. · Molecular Genetics and Metabolism · 2009 · 132 citations · Full text

Medicine, Biochemistry, Pediatrics +15

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

James D. Weisfeld‐Adams, H. Allison Bender, Anna Miley-Åkerstedt et al. · Molecular Genetics and Metabolism · 2013 · 88 citations

Medicine, Neurology, Pediatrics +16

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 85 citations · Full text

Life Sciences, Genetics, Human Development +11

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Martina Huemer, Daria Diodato, Diego Martinelli et al. · Journal of Inherited Metabolic Disease · 2019 · 76 citations · Full text

Public Health, Genetics, Molecular Medicine +15

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin et al. · Brain · 2019 · 54 citations · Full text

Medicine, Genetics, Molecular Genetics +17