Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1824-7288
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report ; volume:47 ; number:1 ; day:7 ; month:7 ; year:2021 ; pages:1-7 ; date:12.2021
The Italian journal of pediatrics ; 47, Heft 1 (7.7.2021), 1-7, 12.2021
- Creator
-
Gan, Yi
Yu, Fei
Fang, Haining
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s13052-021-01094-5
- URN
-
urn:nbn:de:101:1-2021112917460034771708
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:24 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Gan, Yi
- Yu, Fei
- Fang, Haining
- SpringerLink (Online service)
Other Objects (12)
Correction to: Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report
One-pot nucleophilic substitution–double click reactions of biazides leading to functionalized bis(1,2,3-triazole) derivatives
A var2 leaf variegation suppressor locus, SUPPRESSOR OF VARIEGATION3, encodes a putative chloroplast translation elongation factor that is important for chloroplast development in the cold
Study of subsurface eddy properties in northwestern Pacific Ocean based on an eddy-resolving OGCM
The influence of quintessence on the motion of a binary system in cosmology
A virtual simulation experiment platform of subway emergency ventilation system and study on its teaching effect
T-cell immunity: a barrier to Omicron immune evasion
Electropolymerized 1D Growth Coordination Polymer for Hybrid Electrochromic Aqueous Zinc Battery
Long-term variation in the salinity of the Southern Yellow Sea Cold Water Mass, 1976–2006
Match Success Trends in United States Ophthalmology Residency Programs
Sulfamic acid as an efficient and cost-effective catalyst for the synthesis of 2,4,5-triarylimidazoles and 2-arylphenanthrimidazoles
Recent Progress in High Linearly Fused Polycyclic Conjugated Hydrocarbons (PCHs, n > 6) with Well‐Defined Structures
Correction to: Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report
One-pot nucleophilic substitution–double click reactions of biazides leading to functionalized bis(1,2,3-triazole) derivatives
A var2 leaf variegation suppressor locus, SUPPRESSOR OF VARIEGATION3, encodes a putative chloroplast translation elongation factor that is important for chloroplast development in the cold
Study of subsurface eddy properties in northwestern Pacific Ocean based on an eddy-resolving OGCM
The influence of quintessence on the motion of a binary system in cosmology
A virtual simulation experiment platform of subway emergency ventilation system and study on its teaching effect
T-cell immunity: a barrier to Omicron immune evasion
Electropolymerized 1D Growth Coordination Polymer for Hybrid Electrochromic Aqueous Zinc Battery
Long-term variation in the salinity of the Southern Yellow Sea Cold Water Mass, 1976–2006
Match Success Trends in United States Ophthalmology Residency Programs
Sulfamic acid as an efficient and cost-effective catalyst for the synthesis of 2,4,5-triarylimidazoles and 2-arylphenanthrimidazoles
Recent Progress in High Linearly Fused Polycyclic Conjugated Hydrocarbons (PCHs, n > 6) with Well‐Defined Structures
Correction to: Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report
One-pot nucleophilic substitution–double click reactions of biazides leading to functionalized bis(1,2,3-triazole) derivatives
A var2 leaf variegation suppressor locus, SUPPRESSOR OF VARIEGATION3, encodes a putative chloroplast translation elongation factor that is important for chloroplast development in the cold
Study of subsurface eddy properties in northwestern Pacific Ocean based on an eddy-resolving OGCM
The influence of quintessence on the motion of a binary system in cosmology
A virtual simulation experiment platform of subway emergency ventilation system and study on its teaching effect
T-cell immunity: a barrier to Omicron immune evasion
Electropolymerized 1D Growth Coordination Polymer for Hybrid Electrochromic Aqueous Zinc Battery
Long-term variation in the salinity of the Southern Yellow Sea Cold Water Mass, 1976–2006
Match Success Trends in United States Ophthalmology Residency Programs
Sulfamic acid as an efficient and cost-effective catalyst for the synthesis of 2,4,5-triarylimidazoles and 2-arylphenanthrimidazoles