A. Wiedemann

发表

Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

P. Jonveaux, B. Leheup, F. Feillet, 2013, Molecular genetics and metabolism.

Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and Rett Syndrome

G. Weryha, L. Lambert, F. Feillet, 2018, Calcified Tissue International.

Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications

F. Cortés, C. Barnérias, C. Castiglioni, 2020, Human mutation.

[Phenylketonuria, from diet to gene therapy].

A. Oussalah, É. Jeannesson, A. Wiedemann, 2020, Medecine sciences : M/S.

Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis

A. Oussalah, F. Feillet, A. Wiedemann, 2022, Cell reports. Medicine.

Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Glenville Jones, G. Weryha, P. Journeau, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1)

A. Oussalah, G. Weryha, F. Feillet, 2020, Calcified Tissue International.

Two French Families with Vitamin D Dependency Rickets Type 1B Harbor Homozygous Recessive Expression Of CYP2R1 Mutations L99P and G42_L46DEL INSR

S. Brennan, Glenville Jones, F. Feillet, 2016 .

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders.

David Coelho, G. Pourié, N. Dreumont, 2019, Metabolism: clinical and experimental.

[Cyclic vomiting syndrome in children].

F. Feillet, A. Wiedemann, F. Brezin, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis

M. Baumgartner, V. Desquiret-Dumas, P. Reynier, 2019, Journal of Human Genetics.

Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.

A. Belot, R. Cohen, C. Ovaert, 2021, JAMA.

Factors Associated With Severe SARS-CoV-2 Infection

N. Garrec, A. Belot, C. Schweitzer, 2020, Pediatrics.

30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case

S. Ragot, R. Froissart, B. Leheup, 2016, Molecular genetics and metabolism reports.

Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study

C. Chéry, A. Oussalah, F. Namour, 2021, Human Genetics.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

P. van Endert, M. Polak, N. Boddaert, 2020, Journal of inherited metabolic disease.

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

R. Redon, S. Küry, J. Thevenon, 2019, Genetics in Medicine.

Efficacy of low dose nitisinone in the management of alkaptonuria.

M. Merten, F. Feillet, É. Jeannesson, 2019, Molecular genetics and metabolism.

Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and Rett Syndrome

G. Weryha, L. Lambert, F. Feillet, 2018, Calcified Tissue International.

A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

E. Schmitt, J. Rivière, J. Thevenon, 2021, Human mutation.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

A. Vanderver, Y. Crow, D. Lev, 2020, Human mutation.

Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

A. Oussalah, F. Namour, F. Feillet, 2023, Scientific reports.

Treatment of ARS deficiencies with specific amino acids

C. V. van Karnebeek, E. Nieuwenhuis, H. Rehmann, 2021, Genetics in Medicine.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

N. Boddaert, A. Kaminska, A. Harroche, 2023, Molecular genetics and metabolism.

Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Glenville Jones, G. Weryha, P. Journeau, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Vasodilator-Stimulated Phosphoprotein to Monitor Clopidogrel Posology in a 7-Year-Old Child Stented for a Post-Traumatic Intracranial Internal Carotid Artery Aneurysm

R. Anxionnat, O. Klein, A. Wiedemann, 2021, Journal of Pediatric Neurology.

[Newborn screening of phenylketonuria in France].

R. Guéant-Rodriguez, A. Oussalah, F. Feillet, 2021, Medecine sciences : M/S.