A proposed nosology of inborn errors of metabolism

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

(2016) Majid Alfadhel et al.   Orphanet Journal of Rare Diseases

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

(2015) Björn Fischer-Zirnsak et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ALDH18A1gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

(2015) Emanuele Panza et al.   BRAIN

Quo vadis: the re-definition of “inborn metabolic diseases”

(2015) Eva Morava et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes

(2014) D. Simaite et al.   DIABETES

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus

(2013) Mari Saito et al.   BRAIN & DEVELOPMENT

A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing

(2013) Annet Sollie et al.   HUMAN MUTATION

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

(2013) S. Ferre et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: A genomics approach to personalized medicine

(2012) Ryan E. O’Leary et al.   European Journal of Medical Genetics

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

(2010) Annabel Whibley et al.   EUROPEAN JOURNAL OF HUMAN GENETICS