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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2014, Volume 9, Issue 1, p. 130
Journal Article
Gastroenterology, ISSN 0016-5085, 02/2019, Volume 156, Issue 3, pp. e12 - e13
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 11/2014, Volume 9, Issue 1, pp. 161 - 161
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 2, pp. 127 - 131
Journal Article
Acta Paediatrica, ISSN 0803-5253, 10/2019, Volume 108, Issue 10, pp. 1861 - 1866
Aim To evaluate clinical manifestations of tongue‐tie as well as short‐term and long‐term outcomes following frenotomy. Methods In this retrospective study,... 
Frenotomy | Ankyloglossia | Breastfeeding difficulties | Frenulum linguae breve | Tongue‐tie | Mastitis | Tongue | Signs and symptoms | Breastfeeding & lactation | Teeth | Infants | Breast feeding | Swallowing | Body weight gain | Fever | Nipples | Breast | Children | Milk
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2015, Volume 38, Issue 6, pp. 1041 - 1057
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2010, Volume 5, Issue 3, p. e9606
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 08/2014, Volume 9, Issue 1, p. 107
Background: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute... 
Tyrosine | NTBC | Diet | Newborn screening | Hepatocellular carcinoma | Psychomotor impairment | Therapeutic monitoring | Liver transplantation | Succinylacetone | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | LIVER-TRANSPLANTATION | CARDIOMYOPATHY | DRIED-BLOOD SPOTS | TANDEM MASS-SPECTROMETRY | NITISINONE NTBC | PLASMA | GENETICS & HEREDITY | HEREDITARY TYROSINEMIA | TYPE-1 | Liver Transplantation | Renal Insufficiency - diagnosis | Follow-Up Studies | Humans | Rare Diseases - drug therapy | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | Tyrosinemias - diagnosis | Young Adult | Cyclohexanones - adverse effects | Cyclohexanones - therapeutic use | Female | Surveys and Questionnaires | Retrospective Studies | Child | Infant, Newborn | Enzyme Inhibitors - adverse effects | Renal Insufficiency - surgery | Cross-Sectional Studies | Tyrosinemias - therapy | Treatment Outcome | Neonatal Screening - methods | Nitrobenzoates - adverse effects | Enzyme Inhibitors - therapeutic use | Nitrobenzoates - therapeutic use | Adolescent | Liver Failure - surgery | Liver Failure - diagnosis | Complications and side effects | Care and treatment | Liver diseases | Patient outcomes | Development and progression | Research | Tyrosine metabolism | Surveys | Liver | Physiological aspects | Transplantation of organs, tissues, etc | Kidney diseases | Medical screening | Evidence-based medicine | Health aspects | Statistical analysis | Nuclear magnetic resonance--NMR | Physicians | Metabolism | Patients | Medicine | Studies | Liver cancer | Hospitals | Metabolites | Hepatology | Questionnaires | Clinical medicine | Metabolic disorders
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2015, Volume 38, Issue 6, pp. 1059 - 1074
Journal Article