LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, Roger B. Slee, N Fukai, +52

Cell

Bone AccrualSclerostinSignal TransductionMolecular PhysiologyDevelopmental Biology +6

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

Andrea Superti‐Furga, B Steinmann, R Gitzelmann, +5

European Journal of Pediatrics

FibrosisDevelopmental BiologySignal TransductionMolecular PhysiologyGrowth Hormone +12

The diagnosis of hereditary fructose intolerance.

B Steinmann, R Gitzelmann

PubMed

NutritionMetabolic DisorderDiagnosisPathologyHfi Children +20

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Antonio Rossi, Hans J. van der Harten, Frits A. Beemer, +4

Human Genetics

Developmental AnomalyDevelopmental BiologyDiastrophic DysplasiaAtelosteogenesis Type 2Genetic Disorder +4

Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases.

K Baerlocher, R Gitzelmann, B Steinmann, +1

PubMed

Electrolyte DisorderGastroenterologyPathologyCase HfiFood Intolerance +19

Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families.

R Gitzelmann, B Steinmann, Brent Mitchell, +1

PubMed

UrologyAllergyBiochemistryCellular EnzymologyMedicine +11

Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.

E. R. Baumgartner, H. Wick, Robert Maurer, +2

PubMed

NutritionElectrolyte DisorderHeart FailureRenal FunctionHematology +16

Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation.

R Gitzelmann, B Steinmann

PubMed

Urology4-Epimerase DeficiencyBiochemistryGlycobiologyUridine Diphosphate +2

Folic acid non-dependent formiminoglutamic aciduria in two siblings

A. Niederwieser, Paola Giliberti, Anna Matasović, +3

Clinica Chimica Acta

NutritionNon-dependent Formiminoglutamic AciduriaClinical NutritionPediatricsChild Nutrition +5

Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.

Baumgartner Er, H. Wick, Linnell Jc, +3

Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)

Kidney Me-cblHepatologyBiochemistryMethylmalonic AciduriaMedicine +13