Results 31 to 40 of about 2,694 (199)

Slc39a7/zip7 Plays a Critical Role in Development and Zinc Homeostasis in Zebrafish [PDF]

open access: yes, 2012
Background: Slc39a7/Zip7, also known as Ke4, is a member of solute carrier family 39 (Slc39a) and plays a critical role in regulating cell growth and death.
Wang, Fudi   +9 more
core   +6 more sources

Lesões de pele do tipo acrodermatite enteropática em duas crianças com doença da urina de xarope do bordo Acrodermatitis enteropathica-like eruption in two children with maple syrup urine disease

open access: yesAnais Brasileiros de Dermatologia, 2007
Lesões cutâneas semelhantes à acrodermatite enteropática têm sido descritas em pacientes com algumas doenças metabólicas tratadas com dietas hipoprotéicas.
Erasmo Barbante Casella   +5 more
doaj   +1 more source

Think zinc: Transient nutritional deficiency related to novel maternal SLC30A2 mutation potentially precipitated by antenatal proton pump inhibitor exposure

open access: yesClinical Case Reports, Volume 11, Issue 4, April 2023., 2023
A second‐born breastfed infant presented with zinc deficiency. His mother had a novel heterozygous mutation in SLC30A2. A previous baby did not have zinc deficiency but the mother had taken a proton pump inhibitor (PPI) during the second pregnancy. Antenatal PPI exposure may plausibly contribute to transient infantile zinc deficiency. Abstract A second‐
Emma Porter   +3 more
wiley   +1 more source

A case of annular epidermolytic ichthyosis resulting from a de novo mutation, p.I479T, in Keratin 1 Gene

open access: yesIndian Journal of Dermatology, 2021
We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform ...
Lihong Chen   +4 more
doaj   +1 more source

A zinc transporter gene required for development of the nervous system. [PDF]

open access: yes, 2013
The essentiality of zinc for normal brain development is well established. It has been suggested that primary and secondary zinc deficiencies can contribute to the occurrence of numerous human birth defects, including many involving the central nervous ...
Chowanadisai, Winyoo   +4 more
core   +1 more source

An Acrodermatitis Enteropathica Case

open access: yesVan Tıp Dergisi, 2019
Acrodermatitis enteropathica is a rare autosomal recessive inherited disease resulting in zinc deficiency. As a result of disrupted intestinal absorption of zinc, zinc deficiency occurs. Periorificial dermatitis, diarrhea, alopecia and growth retardation
Sevda Önder   +2 more
doaj   +1 more source

The effect of maternal iron deficiency on zinc and copper levels and on genes of zinc and copper metabolism during pregnancy in the rat [PDF]

open access: yes, 2019
Fe deficiency is relatively common in pregnancy and has both short- and long-term consequences. However, little is known about the effect on the metabolism of other micronutrients.
Cottin, Sarah C.   +5 more
core   +5 more sources

Mutation in porcine Zip4-like zinc transporter is associated with pancreatic zinc concentration and apparent zinc absorption [PDF]

open access: yes, 2013
The aim of the present study was to analyse the sequence variability of the porcine Zip4-like Zn transporter gene and the association of identified sequence variants with average daily gain, apparent Zn absorption, plasma Zn concentration and Zn ...
Erhardt, Georg   +3 more
core   +1 more source

Clinical Case of Rare Variant of Inherited Dermatosis: Acrodermatitis Enteropathica

open access: yesВопросы современной педиатрии, 2020
Background. Acrodermatitis enteropathica is the rare form of inherited dermatoses. The disease onset in children is associated with the ablactation and the beginning of cow milk products use, that makes differential diagnosis of acrodermatitis and ...
Elena Y. Khorosheva   +5 more
doaj   +1 more source

Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease

open access: yesDermatology Reports, 2023
Acrodermatitis dysmetabolica (AD) describes eruptions characterized by the clinical triad of acral dermatitis, diarrhea, and alopecia. AD can be caused by various metabolic disorders one of which is maple syrup urine disease (MSUD). We present a 2-month-
Fares A. Alkhayal   +3 more
doaj   +1 more source

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