J. Weisfeld-Adams

发表

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

N. Hauser, B. Graham, J. Christodoulou, 2019, Mitochondrion.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Michael F. Wangler, Katerina O. Wells, E. Roeder, 2019, Human mutation.

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

F. Lublin, J. Weisfeld-Adams, Justin M Honce, 2015, Brain : a journal of neurology.

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

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Guidelines for diagnosis and management... cblF, cblG, cblJ and MTHFR deficiency

Ich, M. Baumgartner, H. Blom, 2019 .

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

M. Baumgartner, H. Blom, L. Vilarinho, 2016, Journal of Inherited Metabolic Disease.

The Abyss.

J. Weisfeld-Adams, 2016, The New England journal of medicine.

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

M. Hersberger, H. Ulmer, T. Coşkun, 2016, Journal of Inherited Metabolic Disease.

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

G. Diaz, J. Weisfeld-Adams, Chunli Yu, 2010, Molecular genetics and metabolism.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.

P. Bonnen, T. Benke, A. Larson, 2017, JIMD reports.

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

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.

J. Weisfeld-Adams, E. Wartchow, C. Galambos, 2019, JIMD reports.

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

M. Tuchman, G. Enns, A. Cnaan, 2018, Translational science of rare diseases.

Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.

G. Diaz, J. Weisfeld-Adams, Emily A. McCourt, 2015, Molecular genetics and metabolism.

Three Sisters with Chiari I Malformation with and without Associated Syringomyelia

M. Likeman, J. Rankin, J. Weisfeld-Adams, 2007, Pediatric Neurosurgery.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Rapid resolution of infantile lipemia retinalis following exchange transfusion

Jennifer L. Jung, J. Weisfeld-Adams, T. Bennett, 2016, Journal of Inherited Metabolic Disease.

Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome

S. Brodie, C. Curcio, C. Cho, 2015, British Journal of Ophthalmology.

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

T. Naidich, G. Diaz, J. Weisfeld-Adams, 2013, Molecular genetics and metabolism.

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

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.

L. Edelmann, J. Weisfeld-Adams, L. Mehta, 2012, European journal of medical genetics.

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

M. Hegde, J. Alexander, J. Weisfeld-Adams, 2017, Epilepsy Research.

Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children’s Cancer Group high-grade glioma study CCG-945

F. Gilles, D. Eisenstat, I. Pollack, 2014, Journal of Neuro-Oncology.

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

S. Scott, Amanda K Tkachuk, J. Weisfeld-Adams, 2017, npj Genomic Medicine.

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

S. Scott, Amanda K Tkachuk, J. Weisfeld-Adams, 2016, npj Genomic Medicine.

Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease

S. Kaicker, J. Weisfeld-Adams, B. Wistinghausen, 2009, Child's Nervous System.

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

C. Cho, F. Lublin, J. Rucker, 2013, Orphanet Journal of Rare Diseases.

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

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features

C. Blackstone, S. Galetta, M. Snuderl, 2019, Annals of neurology.

Epidemiology and severity of paediatric burn injuries occurring during camping and caravanning holidays.

C. Estela, J. Weisfeld-Adams, A. Young, 2010, Burns : journal of the International Society for Burn Injuries.

Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?

J. Weisfeld-Adams, P. Baker, 2015, Journal of Inherited Metabolic Disease.

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

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

M. Tuchman, M. Baumgartner, S. Waisbren, 2021, Human Genetics.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

M. Baumgartner, H. Blom, L. Vilarinho, 2016, Journal of Inherited Metabolic Disease.

Hereditary Fructose Intolerance

J. Weisfeld-Adams, Peter R Baker, Sommer Gaughan, 2015 .

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

J. Weisfeld-Adams, J. Tepperberg, L. Mehta, 2011, American journal of medical genetics. Part A.

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

M. Hegde, J. Alexander, J. Weisfeld-Adams, 2017, Epilepsy Research.

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.

P. Bonnen, T. Benke, A. Larson, 2017, JIMD reports.