Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Jose A. Camacho, Cassandra Obie, Barbara J. Biery, +8

Nature Genetics

Mitochondrial Ornithine TransporterUrologyMendelian DisorderMitochondrial FunctionGenetic Disorder +6

Early treatment of Menkes disease with parenteral Cooper-Histidine: Long-term follow-up of four treated patients

John Christodoulou, David M. Danks, Bibudhendra Sarkar, +5

American Journal of Medical Genetics

Classical Menkes DiseaseRare DiseasesParenteral Copper TreatmentMendelian DisorderMenkes Disease +10

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Christiane Auray‐Blais, Aimé Ntwari, Joe T.R. Clarke, +12

Clinica Chimica Acta

Biomarker (Medicine)UrologyFabry DiseaseMedicineBiomarker Target +8

Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

Anke Bergmann, Inderneel Sahai, Jill Falcone, +10

The Journal of Pediatrics

Laboratory HematologyBiochemistryNovel Compound HeterozygotesNatural SciencesGenetics +10

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders

Deyanira Corzo, William T. Gibson, Kisha Johnson, +13

The American Journal of Human Genetics

Adrenal GlandMendelian DisorderX-linked Adrenoleukodystrophy GeneGenetic DisorderGenetics +6

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

Michael Wang, Albert Schinzel, Dieter Kotzot, +7

American Journal of Medical Genetics

Genetic TestingWbs Common DeletionGenetic DisorderGeneticsDeletion Region +12

Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)

Gordon A. Francis, Gang Li, Robin Casey, +4

BMC Medical Genetics

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

Derrick R. Randall, Karen E. Colobong, Harmony Hemmelgarn, +13

Molecular Genetics and Metabolism

ThrombosisAutoimmune DiseaseMps DiseaseHematologyPathology +4

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Laura E. Case, Carl Bjartmar, Claire Morgan, +12

Neuromuscular Disorders

Pompe DiseaseTranslational MedicineAutoimmune DiseaseTherapeutic EfficacyMedicine +2

Improvement of Bilateral Ptosis on Higher Dose Enzyme Replacement Therapy in Pompe Disease

Tammy L. Yanovitch, Robin Casey, Suhrad G. Banugaria, +1

Journal of Neuro-Ophthalmology