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	1.	Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism. [electronic resource] by Storbeck, Karl-Heinz Schiffer, Lina Baranowski, Elizabeth S Chortis, Vasileios Prete, Alessandro Barnard, Lise Gilligan, Lorna C Taylor, Angela E Idkowiak, Jan Arlt, Wiebke Shackleton, Cedric H L Producer: 20200415 In: Endocrine reviews vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	[Uncommon neonatal case of hypoglycemia: ACTH resistance syndrome]. [electronic resource] by Delmas, O Marrec, C Caietta, E Simonin, G Morel, Y Girard, N Roucher, F Sarles, J Chabrol, B Reynaud, R Producer: 20150904 In: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Impact of growth hormone status on body composition and the skeleton. [electronic resource] by Mukherjee, Annice Murray, Robert D Shalet, Stephen M Producer: 20050629 In: Hormone research vol. 62 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey. [electronic resource] by Jahnel, Jörg Zöhrer, Evelyn Fischler, Björn D'Antiga, Lorenzo Debray, Dominique Dezsofi, Antal Haas, Dorothea Hadzic, Nedim Jacquemin, Emmanuel Lamireau, Thierry Maggiore, Giuseppe McKiernan, Pat J Calvo, Pier L Verkade, Henkjan J Hierro, Loreto McLin, Valerie Baumann, Ulrich Gonzales, Emmanuel Producer: 20180305 In: Journal of pediatric gastroenterology and nutrition vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	ACTH resistance in acromegaly. [electronic resource] by ISHIHARA, I MUKAI, T TANAKA, T Producer: 20030501 In: The Journal of clinical endocrinology and metabolism vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Not all (bile acids) who wander are lost: the first report of a patient with an isolated NTCP defect. [electronic resource] by Karpen, Saul J Dawson, Paul A Producer: 20150310 In: Hepatology (Baltimore, Md.) vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene]. [electronic resource] by Cheng, Ying Guo, Li Deng, Mei Song, Yuan-Zong Producer: 20171026 In: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	8.	Genetic and molecular aspects of hypospadias. [electronic resource] by Utsch, B Albers, N Ludwig, M Producer: 20050201 In: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	[Atypical presentation and delayed diagnosis in a case of primary bile acid synthesis disorder]. [electronic resource] by Garfia Castillo, Cristina Manzanares López-Manzanares, Javier García Silva, M Teresa Producer: 20160920 In: Medicina clinica vol. 145 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	NTCP deficiency: a new inherited disease of bile acid transport. [electronic resource] by Erlinger, Serge Producer: 20150521 In: Clinics and research in hepatology and gastroenterology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	[Progressive familial intrahepatic cholestasis related to mutation of the TJP2 gene: recent advances]. [electronic resource] by Zhang, J Yu, H Producer: 20160915 In: Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	miR-505-3p controls chemokine receptor up-regulation in macrophages: role in familial hypercholesterolemia. [electronic resource] by Escate, Rafael Mata, Pedro Cepeda, Jose Maria Padró, Teresa Badimon, Lina Producer: 20181023 In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A brief history of adrenal research: steroidogenesis - the soul of the adrenal. [electronic resource] by Miller, Walter L Producer: 20130930 In: Molecular and cellular endocrinology vol. 371 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A new model of care for familial hypercholesterolaemia: what is the role of cardiology? [electronic resource] by Watts, Gerald F Sullivan, David R van Bockxmeer, Frank M Poplawski, Nicola Hamilton-Craig, Ian Clifton, Peter M O'Brien, Richard C Bishop, Warrick George, Peter M Semsarian, Christopher Tonkin, Andrew Producer: 20121205 In: Heart, lung & circulation vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. [electronic resource] by Metherell, Louise A Cooray, Sadani Huebner, Angela Ruschendorf, Franz Naville, Danielle Begeot, Martine Clark, Adrian J L Producer: 20050610 In: Endocrine research vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene. [electronic resource] by Jacoby, Elad Barzilai, Aviv Laufer, Joseph Pade, Shai Anikster, Yair Pinhas-Hamiel, Orit Greenberger, Shoshana Producer: 20140923 In: Pediatric dermatology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Liver Transplantation for HoFH in Children: Single Center Experience. [electronic resource] by Cephus, Constance E Qureshi, Athar M Sexson-Tejtel, S Kristen Goss, John A Moodie, Douglas S Producer: 20161018 In: Congenital heart disease vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Cardiovascular effects of growth hormone treatment: potential risks and benefits. [electronic resource] by Colao, Annamaria Producer: 20050629 In: Hormone research vol. 62 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Advances in growth hormone therapy: a new registry tool. [electronic resource] by Pugeat, M Producer: 20050412 In: Hormone research vol. 62 Suppl 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Re: Unexpected Ethical Dilemmas in Sex Assignment in 46,XY DSD Due to 5-Alpha Reductase Type 2 Deficiency. [electronic resource] by Canning, Douglas A Producer: 20190325 In: The Journal of urology vol. 200 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 141 results.