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molecular genetics and metabolism reports

Indexings
scopus ncbi
Short Name mol genet metab rep
Abbreviated Name mol genet metab rep
ISSN 2214-4269
Aim and Scope
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Publications Per Year

Recent Articles (8 total)

2019
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.
Piccolo, Pasquale;Sabatino, Valeria;Mithbaokar, Pratibha;Polishchuck, Elena;Law, Simon K;Magraner-Pardo, Lorena;Pons, Tirso;Polishchuck, Roman;Brunetti-Pierri, Nicola;
Vol. 21 , pp. 100504
241 views DOI Abstract
2020
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Haijes, H A;Prinsen, Hubertus C M T;de Sain-van der Velden, Monique G M;Verhoeven-Duif, Nanda M;van Hasselt, Peter M;Jans, Judith J M;
Vol. 22 , pp. 100551
219 views DOI Abstract
2019
Response to comment on “High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders”
Wolf, B.
Vol. 21 , pp. 0-0
218 views DOI
2019
Comment on “High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders”
Julien, F.
Vol. 21 , pp. 0-0
214 views DOI
2019
Case reports of metabolic disorders from Nepal
Sharma, Pandey A.
Vol. 21 , pp. 0-0
200 views DOI
2017
caracterização de cânions urbanos e seus efeitos climáticos em área com intenso processo de verticalização na cidade de fortaleza-ce (characterization of urban canyons and their climatic effects in an area with intense verticalization process in the ...)
;Rivelino Martins Cavalcante;Larissa Morais Aguiar;Marcus Vinicius Silva;Adilson Wagner Gandu;Camille Arraes Rocha
Vol. 10 , No. 4 , pp. 1046-1058
179 views DOI Abstract
2019
Expanding the clinical spectrum of mutations.
Barcia, Giulia;Assouline, Zahra;Pennisi, Alessandra;Steffann, Julie;Boddaert, Nathalie;Gitiaux, Cyril;Rötig, Agnès;Bonnefont, Jean-Paul;Munnich, Arnold;
Vol. 21 , pp. 100501
146 views DOI Abstract
2011
diagnóstico ambiental da microbacia hidrográfica do rio do saco, santa luzia–pb (environmental diagnosis of the rio do saco watershed, santa luzia-pb)
;Telma Lucia Bezerra Alves;Alana Ramos Araujo;Allan Nunes Alves;Aline Costa Ferreira;Joselito Eulâmpio da Nóbrega
Vol. 4 , No. 2 , pp. 396-412
118 views Abstract
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