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 · 130 citations · Full text

Urology, Medicine, Combined Methylmalonic Aciduria +8

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 · 83 citations

C Type, Pediatrics, Nutritional Neuroscience +8

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 · 83 citations · Full text

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 · 73 citations · Full text

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 · 52 citations · Full text