Results 171 to 180 of about 38,522 (353)

An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum

, 1978
Emanuel Epstein
openalex   +2 more sources

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, EarlyView.
Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China. [PDF]

Front Genet
Zhang H, Tian H, Dai W, Zhang L, Guo G, Ding G.   +5 more
europepmc   +1 more source

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. [PDF]

Cells, 2023
Bremova-Ertl T, Hofmann J, Stucki J, Vossenkaul A, Gautschi M.   +4 more
europepmc   +1 more source

Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?

, 1979
Shiro Hayashi, Atsushi Kimura, Ryoichi Hoshino, Kiyoshi Takahashi, KOICHI TSURUMI   +4 more
openalex   +2 more sources

Inborn Errors of Metabolism: Garrod’s Legacy [PDF]

, 1996
Alexander G. Bearn
openalex   +1 more source

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
This systematic review found that while the Gross Motor Function Measure (GMFM) is widely used across 208 studies involving various pediatric conditions beyond cerebral palsy, validation studies exist for only eight conditions with generally low‐quality evidence.
Hirokazu Abe, Shuhei Higashi, Nobuaki Himuro   +2 more
wiley   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries. [PDF]

Afr J Lab Med, 2023
Anetor JI, Orimadegun BE, Anetor GO.
europepmc   +1 more source

Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism [PDF]

, 2000
Johannes Zschocke, Jos P.N. Ruiter, Jochen Brand, Martin Lindner, Georg F. Hoffmann, Ronald J. A. Wanders, Ertan Mayatepek   +6 more
openalex   +1 more source